ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.809del (p.Gly270fs)

dbSNP: rs923535659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000722969 SCV001582118 pathogenic not provided 2020-07-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gly270Alafs*59) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ERCC6-related conditions. ClinVar contains an entry for this variant (Variation ID: 591787). Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 18628313, 29572252).
Gharavi Laboratory, Columbia University RCV000722969 SCV000854100 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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