ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2156A>C (p.Lys719Thr)

dbSNP: rs876660920
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218518 SCV000278729 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-08 criteria provided, single submitter clinical testing The p.K719T variant (also known as c.2156A>C), located in coding exon 9 of the BRCA1 gene, results from an A to C substitution at nucleotide position 2156. The lysine at codon 719 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly 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 alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000218518 SCV001339988 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-16 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000218518 SCV003849455 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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