ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2468G>C (p.Arg823Thr)

dbSNP: rs876659731
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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 RCV000573453 SCV000673060 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-11 criteria provided, single submitter clinical testing The p.R823T variant (also known as c.2468G>C), located in coding exon 9 of the BRCA1 gene, results from a G to C substitution at nucleotide position 2468. The arginine at codon 823 is replaced by threonine, 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 RCV000573453 SCV003847648 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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