ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1282C>G (p.Leu428Val)

dbSNP: rs547590567
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000227331 SCV000283167 likely benign Hereditary breast ovarian cancer syndrome 2023-12-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000583967 SCV000688703 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985463 SCV001133675 uncertain significance not provided 2018-10-23 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000583967 SCV003849968 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).
Ambry Genetics RCV000583967 SCV004052660 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-12 criteria provided, single submitter clinical testing The p.L428V variant (also known as c.1282C>G), located in coding exon 9 of the BRCA2 gene, results from a C to G substitution at nucleotide position 1282. The leucine at codon 428 is replaced by valine, an amino acid with highly 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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