ARV1

Chr 1AR

ARV1 fatty acid homeostasis modulator

Also known as: DEE38, EIEE38

NCBI Gene: 64801 ENSG00000173409 UniProt: Q9H2C2 OMIM: 611647

The protein mediates endoplasmic reticulum cholesterol and bile acid homeostasis and participates in sterol transport from the ER to plasma membranes. Autosomal recessive mutations cause developmental and epileptic encephalopathy 38, which presents in early infancy with seizures and developmental delays. The gene is highly constrained against loss-of-function variants (pLI near 1), indicating intolerance to protein disruption.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

this gene encodes a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this gene are associated with early infantile epileptic encephalopathy 38. [provided by RefSeq, Nov 2016]

OMIM ResearchGenerating clinical summary…

ARLOEUF 1.251 OMIM phenotype

Clinical Summary— ARV1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

16 unique Pathogenic / Likely Pathogenic· 44 VUS of 82 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.25LOEUF

pLI 0.000

Z-score 0.89

OE 0.74 (0.46–1.25)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.19Z-score

OE missense 0.96 (0.83–1.10)

139 obs / 145.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.74 (0.46–1.25)

0≤0.351.4

Missense OE?0.96 (0.83–1.10)

0≤0.61.4

Synonymous OE?0.93

0≤1.21.6

LoF obs/exp: 10 / 13.5Missense obs/exp: 139 / 145.5Syn Z: 0.39

ClinVar Variant Classifications

82 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5

Likely Pathogenic11

VUS44

Likely Benign10

Benign3

Conflicting1

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	5	0	0	0	5
Likely Pathogenic	9	2	0	0	11
VUS	2	41	1	0	44
Likely Benign	0	4	1	5	10
Benign	0	1	1	1	3
Conflicting	—				1
Total	16	48	3	6	74

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

39 pathogenic / likely-pathogenic (of 52) ClinVar copy-number / structural variants overlap ARV1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →