ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4567G>T (p.Gly1523Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003443556 SCV004168700 uncertain significance not provided 2023-04-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individual(s) with ovarian cancer in published literature (Alhuqail et al., 2018); Also known as 4795G>T; This variant is associated with the following publications: (PMID: 9002670, 22193408, 29297111)

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