Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000679285 | SCV000805993 | uncertain significance | not provided | 2017-03-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001010721 | SCV001170958 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-05-21 | criteria provided, single submitter | clinical testing | The p.Y43D variant (also known as c.127T>G), located in coding exon 1 of the MSH2 gene, results from a T to G substitution at nucleotide position 127. The tyrosine at codon 43 is replaced by aspartic acid, an amino acid with highly dissimilar 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. In addition, this alteration is predicted to be deleterious by MAPP-MMR in silico analyses (Chao EC et al. Hum. Mutat. 2008 Jun;29:852-60). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001861867 | SCV002300913 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2022-11-24 | 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 performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 33357406) indicates that this missense variant is not expected to disrupt MSH2 function. ClinVar contains an entry for this variant (Variation ID: 560786). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 43 of the MSH2 protein (p.Tyr43Asp). |
All of Us Research Program, |
RCV004004219 | SCV004837655 | uncertain significance | Lynch syndrome | 2023-11-30 | criteria provided, single submitter | clinical testing |