ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.462C>G (p.His154Gln)

gnomAD frequency: 0.00025  dbSNP: rs139263710
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001261931 SCV001439274 uncertain significance Cerebrooculofacioskeletal syndrome 2 2020-08-26 criteria provided, single submitter research ACMG codes:PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV001880026 SCV002288883 uncertain significance not provided 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 154 of the ERCC2 protein (p.His154Gln). This variant is present in population databases (rs139263710, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ERCC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 982306). 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. 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.
GeneDx RCV001880026 SCV005334002 uncertain significance not provided 2024-03-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34930662, 27085493)
Fulgent Genetics, Fulgent Genetics RCV005014315 SCV005648424 uncertain significance Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive 2024-06-21 criteria provided, single submitter clinical testing

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