ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.2006G>C (p.Arg669Pro)

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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 RCV004638351 SCV005142008 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-28 criteria provided, single submitter clinical testing The p.R669P variant (also known as c.2006G>C), located in coding exon 14 of the MSH3 gene, results from a G to C substitution at nucleotide position 2006. The arginine at codon 669 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005040737 SCV005666195 uncertain significance Endometrial carcinoma; Familial adenomatous polyposis 4 2024-03-09 criteria provided, single submitter clinical testing

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