ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5390C>T (p.Ser1797Leu)

dbSNP: rs879255492
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615770 SCV000722311 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002518535 SCV003315448 uncertain significance Hereditary breast ovarian cancer syndrome 2022-03-18 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. 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) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 252886). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1797 of the BRCA1 protein (p.Ser1797Leu).
Sharing Clinical Reports Project (SCRP) RCV000238611 SCV000297489 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2014-01-14 no assertion criteria provided clinical testing
Brotman Baty Institute, University of Washington RCV000238611 SCV001238664 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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