ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.141T>G (p.Asp47Glu)

dbSNP: rs1668124415
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001884521 SCV002160693 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2021-11-15 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. 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 aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 47 of the MSH6 protein (p.Asp47Glu).
All of Us Research Program, National Institutes of Health RCV004010790 SCV004838904 uncertain significance Lynch syndrome 2024-01-11 criteria provided, single submitter clinical testing

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