ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.222A>C (p.Gln74His) (rs730881465)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471434 SCV000549399 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-23 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 74 of the BRCA1 protein (p.Gln74His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 182124). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001014818 SCV001175577 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-11 criteria provided, single submitter clinical testing Insufficient evidence
Brotman Baty Institute,University of Washington RCV001076027 SCV001241704 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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