ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.187T>G (p.Ser63Ala)

dbSNP: rs763702846
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562024 SCV000669935 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-22 criteria provided, single submitter clinical testing The p.S63A variant (also known as c.187T>G), located in coding exon 1 of the MSH6 gene, results from a T to G substitution at nucleotide position 187. The serine at codon 63 is replaced by alanine, 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 RCV000629755 SCV000750711 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2021-11-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MSH6 protein function. ClinVar contains an entry for this variant (Variation ID: 483775). This variant has not been reported in the literature in individuals affected with MSH6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 63 of the MSH6 protein (p.Ser63Ala).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759848 SCV000889465 uncertain significance not provided 2018-07-11 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000562024 SCV002535678 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-04 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV004001048 SCV004830470 uncertain significance Lynch syndrome 2023-08-15 criteria provided, single submitter clinical testing

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