DSCC1

Chr 8

DNA replication and sister chromatid cohesion 1

Also known as: DCC1

NCBI Gene: 79075 ENSG00000136982 UniProt: Q9BVC3 OMIM: 613203

The DSCC1 protein is a component of an alternative replication factor C complex that loads PCNA onto DNA during S phase and regulates DNA replication fork activity and sister chromatid cohesion. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.67), but specific disease associations and inheritance patterns have not been established in the provided data. Additional clinical and genetic studies are needed to define the phenotypic spectrum associated with DSCC1 variants.

OMIM ResearchSummary from RefSeq, UniProt

CHTF18 (MIM 613201), CHTF8 (MIM 613202), and DSCC1 are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell cycle (Merkle et al., 2003 [PubMed 12766176]; Bermudez et al., 2003 [PubMed 12930902]).[supplied by OMIM, Dec 2009]

OMIM ResearchGenerating clinical summary…

LOEUF 0.67

Clinical Summary— DSCC1

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Population Constraint (gnomAD)

Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

42 VUS of 62 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?

0.67LOEUF

pLI 0.008

Z-score 2.65

OE 0.36 (0.20–0.67)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.17Z-score

OE missense 0.77 (0.67–0.88)

153 obs / 199.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.36 (0.20–0.67)

0≤0.351.4

Missense OE?0.77 (0.67–0.88)

0≤0.61.4

Synonymous OE?0.71

0≤1.21.6

LoF obs/exp: 7 / 19.7Missense obs/exp: 153 / 199.7Syn Z: 1.94

ClinVar Variant Classifications

62 submitted variants in ClinVar

ClinVar

Classification Summary

VUS42

Likely Benign1

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	42	0	42
Likely Benign	0	1	1
Benign	0	0	0
Total	42	1	43

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

View in ClinVar →

52 pathogenic / likely-pathogenic (of 58) ClinVar copy-number / structural variants overlap DSCC1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →