ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2267G>C (p.Arg756Thr)

dbSNP: rs975724885
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240986 SCV001413975 uncertain significance Hereditary breast ovarian cancer syndrome 2019-11-13 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with threonine at codon 756 of the BRCA1 protein (p.Arg756Thr). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and threonine.
University of Washington Department of Laboratory Medicine, University of Washington RCV003158602 SCV003847801 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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