ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3457C>G (p.Leu1153Val)

dbSNP: rs1555587658
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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 RCV000573722 SCV000668437 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-22 criteria provided, single submitter clinical testing The p.L1153V variant (also known as c.3457C>G), located in coding exon 9 of the BRCA1 gene, results from a C to G substitution at nucleotide position 3457. The leucine at codon 1153 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV000573722 SCV003846883 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).

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