ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.190G>A (p.Ala64Thr)

gnomAD frequency: 0.00001  dbSNP: rs587779921
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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 RCV000128983 SCV000172871 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-19 criteria provided, single submitter clinical testing The p.A64T variant (also known as c.190G>A), located in coding exon 1 of the MSH6 gene, results from a G to A substitution at nucleotide position 190. The alanine at codon 64 is replaced by threonine, 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 RCV000531333 SCV000624702 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-02-04 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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: 140804). This variant has not been reported in the literature in individuals affected with MSH6-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 64 of the MSH6 protein (p.Ala64Thr).
Color Diagnostics, LLC DBA Color Health RCV000128983 SCV001352500 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003997469 SCV004828503 uncertain significance Lynch syndrome 2023-12-01 criteria provided, single submitter clinical testing

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