ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1538A>G (p.His513Arg)

dbSNP: rs1356078500
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000637676 SCV000759146 uncertain significance Hereditary breast ovarian cancer syndrome 2017-11-19 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BRCA1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with arginine at codon 513 of the BRCA1 protein (p.His513Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and arginine.
University of Washington Department of Laboratory Medicine, University of Washington RCV003157786 SCV003851227 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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