ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.988T>C (p.Ser330Pro)

dbSNP: rs770408023
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566160 SCV000670007 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-28 criteria provided, single submitter clinical testing The p.S330P variant (also known as c.988T>C), located in coding exon 4 of the MSH6 gene, results from a T to C substitution at nucleotide position 988. The serine at codon 330 is replaced by proline, an amino acid with similar properties. This amino acid position is not well conserved in available 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.
Invitae RCV001055886 SCV001220300 benign Hereditary nonpolyposis colorectal neoplasms 2023-07-07 criteria provided, single submitter clinical testing
GeneDx RCV003332204 SCV004039812 uncertain significance not provided 2023-03-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 21437237)
All of Us Research Program, National Institutes of Health RCV004001058 SCV004838927 uncertain significance Lynch syndrome 2024-01-11 criteria provided, single submitter clinical testing

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