ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1003A>G (p.Met335Val)

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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 RCV003076568 SCV003449347 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2022-05-28 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 335 of the ERCC4 protein (p.Met335Val). 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 tolerated. This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. This variant is present in population databases (rs758884625, gnomAD 0.002%).
Fulgent Genetics, Fulgent Genetics RCV005019608 SCV005645246 uncertain significance Xeroderma pigmentosum, group F; XFE progeroid syndrome; Fanconi anemia complementation group Q 2024-03-18 criteria provided, single submitter clinical testing

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