ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.350G>A (p.Gly117Glu)

dbSNP: rs1668691850
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001947447 SCV002137367 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-05-02 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 sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 117 of the MSH6 protein (p.Gly117Glu). 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.
Ambry Genetics RCV002458680 SCV002613694 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-28 criteria provided, single submitter clinical testing The p.G117E variant (also known as c.350G>A), located in coding exon 2 of the MSH6 gene, results from a G to A substitution at nucleotide position 350. The glycine at codon 117 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004009226 SCV004814469 uncertain significance Lynch syndrome 2023-02-10 criteria provided, single submitter clinical testing

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