ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2669T>A (p.Val890Asp)

dbSNP: rs1114167741
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001971558 SCV002261172 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2024-11-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 890 of the MSH6 protein (p.Val890Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1477364). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt MSH6 protein function with a negative predictive value of 95%. 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.
Sema4, Sema4 RCV002256878 SCV002535760 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-04 criteria provided, single submitter curation
Ambry Genetics RCV002256878 SCV005445949 uncertain significance Hereditary cancer-predisposing syndrome 2024-12-02 criteria provided, single submitter clinical testing The p.V890D variant (also known as c.2669T>A), located in coding exon 4 of the MSH6 gene, results from a T to A substitution at nucleotide position 2669. The valine at codon 890 is replaced by aspartic acid, an amino acid with highly 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 variant remains unclear.

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