ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.545C>T (p.Ala182Val)

gnomAD frequency: 0.00029  dbSNP: rs142936491
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000358437 SCV000413590 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.
Invitae RCV000896557 SCV001040654 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000896557 SCV002009185 likely benign not provided 2021-11-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256053 SCV002531602 likely benign Xeroderma pigmentosum 2021-04-20 criteria provided, single submitter curation
ITMI RCV000120786 SCV000084950 not provided not specified 2013-09-19 no assertion provided reference population
Molecular Oncology - Human Genetics Lab, University of Sao Paulo RCV001843479 SCV002103130 likely pathogenic Hepatoblastoma no assertion criteria provided research

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