ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.679C>T (p.Arg227Cys)

gnomAD frequency: 0.00026  dbSNP: rs137910235
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224777 SCV000281388 uncertain significance not provided 2015-11-23 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001262008 SCV001439372 uncertain significance Cerebrooculofacioskeletal syndrome 2 2020-08-26 criteria provided, single submitter research ACMG codes:PM2, PP3
Baylor Genetics RCV001294173 SCV001483002 uncertain significance Trichothiodystrophy 1, photosensitive 2018-12-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV000224777 SCV002191364 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 227 of the ERCC2 protein (p.Arg227Cys). This variant is present in population databases (rs137910235, gnomAD 0.09%). 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: 134116). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ERCC2 protein function. 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.
ITMI RCV000120788 SCV000084952 not provided not specified 2013-09-19 no assertion provided reference population

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