ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1040T>C (p.Leu347Pro)

dbSNP: rs757987511
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186123 SCV001352467 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-26 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV001186123 SCV003846209 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 RCV001186123 SCV005549984 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-13 criteria provided, single submitter clinical testing The p.L347P variant (also known as c.1040T>C), located in coding exon 9 of the BRCA1 gene, results from a T to C substitution at nucleotide position 1040. The leucine at codon 347 is replaced by proline, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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