ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2995C>A (p.Leu999Ile)

dbSNP: rs80356848
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001017832 SCV001178988 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-30 criteria provided, single submitter clinical testing The p.L999I variant (also known as c.2995C>A), located in coding exon 9 of the BRCA1 gene, results from a C to A substitution at nucleotide position 2995. The leucine at codon 999 is replaced by isoleucine, an amino acid with highly similar properties. 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV001017832 SCV003849202 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).
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577570 SCV000679642 not provided Familial cancer of breast no assertion provided literature only

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