ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.212A>C (p.Asn71Thr)

dbSNP: rs1553408375
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566400 SCV000662517 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-07 criteria provided, single submitter clinical testing The p.N71T variant (also known as c.212A>C), located in coding exon 1 of the MSH6 gene, results from an A to C substitution at nucleotide position 212. The asparagine at codon 71 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000630028 SCV000750984 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-10-03 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: 479928). 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 asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 71 of the MSH6 protein (p.Asn71Thr).
All of Us Research Program, National Institutes of Health RCV004000881 SCV004837617 uncertain significance Lynch syndrome 2023-11-30 criteria provided, single submitter clinical testing

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