ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2800C>A (p.Pro934Thr)

dbSNP: rs1554875536
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591568 SCV000700582 likely pathogenic not provided 2016-10-27 criteria provided, single submitter clinical testing
3billion RCV003313967 SCV004013814 likely pathogenic Cockayne syndrome type 2 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.75). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with ERCC6 related disorder (ClinVar ID: VCV000496904 / PMID: 26749132). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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