Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002230804 | SCV000548184 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2016-06-26 | criteria provided, single submitter | clinical testing | In summary, this variant is a novel missense change with uncertain impact on protein function. 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 disruptive, but these predictions have not been confirmed by published functional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an MSH2-related disease. This sequence change replaces alanine with threonine at codon 804 of the MSH2 protein (p.Ala804Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. |
Ambry Genetics | RCV001015446 | SCV001176278 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-09-22 | criteria provided, single submitter | clinical testing | The p.A804T variant (also known as c.2410G>A), located in coding exon 14 of the MSH2 gene, results from a G to A substitution at nucleotide position 2410. The alanine at codon 804 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |