ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.539A>C (p.Asp180Ala)

dbSNP: rs1159514085
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002021342 SCV002311114 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2023-04-05 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: 1517875). 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 aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 180 of the MSH2 protein (p.Asp180Ala).
Ambry Genetics RCV002346310 SCV002650973 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-15 criteria provided, single submitter clinical testing The p.D180A variant (also known as c.539A>C), located in coding exon 3 of the MSH2 gene, results from an A to C substitution at nucleotide position 539. The aspartic acid at codon 180 is replaced by alanine, an amino acid with 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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