ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.19C>A (p.Arg7Ser) (rs80356994)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000637702 SCV000759173 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-04-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 7 of the BRCA1 protein (p.Arg7Ser). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and serine. This variant is present in population databases (rs80356994, ExAC 0.006%). This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant has been reported to have conflicting or insufficient data to determine the effect on BRCA1 protein function (PMID: 30209399). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Brotman Baty Institute,University of Washington RCV001078111 SCV001244159 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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