ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4990C>G (p.Leu1664Val)

dbSNP: rs1467535423
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002339374 SCV002640435 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-25 criteria provided, single submitter clinical testing The p.L1664V variant (also known as c.4990C>G), located in coding exon 15 of the BRCA1 gene, results from a C to G substitution at nucleotide position 4990. The leucine at codon 1664 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Brotman Baty Institute, University of Washington RCV001077414 SCV001243342 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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