ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2054T>C (p.Leu685Pro)

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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 RCV002736135 SCV003018621 uncertain significance not provided 2022-08-12 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with ERCC6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 685 of the ERCC6 protein (p.Leu685Pro).
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV004765558 SCV005380254 likely pathogenic Cockayne syndrome type 2 criteria provided, single submitter not provided

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