ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.1775G>A (p.Arg592His)

gnomAD frequency: 0.00089  dbSNP: rs147224585
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001799620 SCV002043841 uncertain significance not provided 2022-03-03 criteria provided, single submitter clinical testing Observed in the heterozygous state in multiple individuals with familial breast cancer (Rump 2016); Published functional studies demonstrate no damaging effect: wild type levels of nucleotide excision repair and no evidence of negative modulation of transcription of target genes (Rump 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27504877, 26752647, 24728327)
Labcorp Genetics (formerly Invitae), Labcorp RCV001799620 SCV002369649 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
ITMI RCV000120768 SCV000084932 not provided not specified 2013-09-19 no assertion provided reference population

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