ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2917C>G (p.Leu973Val)

dbSNP: rs80357080
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509848 SCV000608107 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-24 criteria provided, single submitter clinical testing The p.L973V variant (also known as c.2917C>G), located in coding exon 9 of the BRCA1 gene, results from a C to G substitution at nucleotide position 2917. The leucine at codon 973 is replaced by valine, an amino acid with highly similar properties. This alteration was reported in a cohort of 55630 patients who underwent BRCA1 gene sequencing at a commercial laboratory and was classified as a variant of unknown significance (Judkins T et al. Cancer Res, 2005 Nov;65:10096-103). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001302190 SCV001491388 likely benign Hereditary breast ovarian cancer syndrome 2022-07-07 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000509848 SCV003849250 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).
Myriad Genetics, Inc. RCV000083191 SCV004043178 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2023-09-05 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752].
Sharing Clinical Reports Project (SCRP) RCV000083191 SCV000115265 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2012-04-09 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083191 SCV000144580 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2003-12-23 no assertion criteria provided clinical testing

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