Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001315805 | SCV001506397 | uncertain significance | not provided | 2022-01-07 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1016752). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 961 of the MSH3 protein (p.Glu961Asp). |
Baylor Genetics | RCV003462887 | SCV004197467 | uncertain significance | Endometrial carcinoma | 2023-05-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004034372 | SCV005018758 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-10-04 | criteria provided, single submitter | clinical testing | The p.E961D variant (also known as c.2883A>T), located in coding exon 21 of the MSH3 gene, results from an A to T substitution at nucleotide position 2883. The glutamic acid at codon 961 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. 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. |