ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.795G>T (p.Arg265Ser)

dbSNP: rs61754143
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000808182 SCV000948277 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2022-12-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 652600). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BRIP1 protein function. This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 265 of the BRIP1 protein (p.Arg265Ser).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001797800 SCV002041782 uncertain significance not specified 2021-11-25 criteria provided, single submitter clinical testing

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