SESTD1

Chr 2

SEC14 and spectrin domain containing 1

Also known as: Solo

NCBI Gene: 91404 ENSG00000187231 UniProt: Q86VW0 OMIM: 621011

Enables phosphatidylinositol-3,4-bisphosphate binding activity and phospholipid binding activity. Involved in negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel. Located in calcium channel complex and intermediate filament cytoskeleton. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

LOEUF 0.27

Clinical Summary— SESTD1

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

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ClinVar Variants

58 VUS of 83 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.27LOEUF

pLI 0.998

Z-score 5.36

OE 0.13 (0.07–0.27)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

2.31Z-score

OE missense 0.66 (0.59–0.73)

235 obs / 357.8 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.13 (0.07–0.27)

0≤0.351.4

Missense OE?0.66 (0.59–0.73)

0≤0.61.4

Synonymous OE?0.90

0≤1.21.6

LoF obs/exp: 6 / 44.6Missense obs/exp: 235 / 357.8Syn Z: 0.92

ClinVar Variant Classifications

83 submitted variants in ClinVar

ClinVar

Classification Summary

VUS58

Likely Benign1

Benign2

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0	0
Likely Pathogenic	0	0	0	0	0
VUS	1	57	0	0	58
Likely Benign	0	0	1	0	1
Benign	0	0	0	2	2
Total	1	57	1	2	61

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

View in ClinVar →

26 pathogenic / likely-pathogenic (of 31) ClinVar copy-number / structural variants overlap SESTD1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →