ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1286T>G (p.Ile429Arg)

dbSNP: rs775869160
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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 RCV000571259 SCV000668474 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-06 criteria provided, single submitter clinical testing The p.I429R variant (also known as c.1286T>G), located in coding exon 9 of the BRCA1 gene, results from a T to G substitution at nucleotide position 1286. The isoleucine at codon 429 is replaced by arginine, an amino acid with similar 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 RCV000571259 SCV003846045 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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