ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3438T>G (p.Cys1146Trp)

dbSNP: rs1555587693
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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 RCV001185586 SCV001351836 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001185586 SCV002614660 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-18 criteria provided, single submitter clinical testing The p.C1146W variant (also known as c.3438T>G), located in coding exon 9 of the BRCA1 gene, results from a T to G substitution at nucleotide position 3438. The cysteine at codon 1146 is replaced by tryptophan, an amino acid with highly dissimilar properties. This amino acid position is not 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV001185586 SCV003848578 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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