ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1528T>A (p.Tyr510Asn)

dbSNP: rs1464456889
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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 RCV001967823 SCV002222416 uncertain significance not provided 2022-09-23 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 510 of the ERCC6 protein (p.Tyr510Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ERCC6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1441057). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Institute of Human Genetics, University of Leipzig Medical Center RCV004762267 SCV005368218 uncertain significance Cockayne syndrome type 2 2024-07-23 criteria provided, single submitter clinical testing Criteria applied: PM2_SUP,PP3

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