ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.1962C>T (p.Phe654=)

gnomAD frequency: 0.00011  dbSNP: rs762985501
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000370543 SCV000413567 uncertain significance Xeroderma pigmentosum, group D 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000931954 SCV001077631 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258877 SCV002531586 likely benign Xeroderma pigmentosum 2021-01-31 criteria provided, single submitter curation
Ambry Genetics RCV002418192 SCV002720138 likely benign Inborn genetic diseases 2022-02-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000931954 SCV005050903 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing ERCC2: BP4, BP7

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