ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.994C>G (p.Arg332Gly)

dbSNP: rs80357176
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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 RCV001019938 SCV001181356 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-26 criteria provided, single submitter clinical testing The p.R332G variant (also known as c.994C>G), located in coding exon 9 of the BRCA1 gene, results from a C to G substitution at nucleotide position 994. The arginine at codon 332 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is poorly 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 RCV001019938 SCV003846245 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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