ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3818A>T (p.Gln1273Leu)

dbSNP: rs431825400
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045445 SCV001209297 uncertain significance Hereditary breast ovarian cancer syndrome 2019-04-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with BRCA1-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with leucine at codon 1273 of the BRCA1 protein (p.Gln1273Leu). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and leucine.
University of Washington Department of Laboratory Medicine, University of Washington RCV003158331 SCV003846126 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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