ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3688T>A (p.Leu1230Ile)

dbSNP: rs786201581
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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 RCV001020882 SCV001182422 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-01 criteria provided, single submitter clinical testing The p.L1230I variant (also known as c.3688T>A), located in coding exon 9 of the BRCA1 gene, results from a T to A substitution at nucleotide position 3688. The leucine at codon 1230 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, isoleucine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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 RCV001020882 SCV003851448 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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