ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3029C>T (p.Pro1010Leu)

dbSNP: rs1597866094
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822403 SCV000963204 uncertain significance Hereditary breast ovarian cancer syndrome 2018-11-08 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BRCA1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 1010 of the BRCA1 protein (p.Pro1010Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine.
Ambry Genetics RCV001018167 SCV001179363 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-07 criteria provided, single submitter clinical testing The p.P1010L variant (also known as c.3029C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 3029. The proline at codon 1010 is replaced by leucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
University of Washington Department of Laboratory Medicine, University of Washington RCV001018167 SCV003849180 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).
All of Us Research Program, National Institutes of Health RCV004002841 SCV004836360 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2024-01-06 criteria provided, single submitter clinical testing

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