ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1031A>C (p.Gln344Pro)

dbSNP: rs1673078633
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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 RCV001065068 SCV001230007 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-02-27 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has been reported in individuals in the Universal Mutation Database (PMID: 10612827). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with proline at codon 344 of the MSH2 protein (p.Gln344Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline.
Myriad Genetics, Inc. RCV003455285 SCV004186659 likely pathogenic Lynch syndrome 1 2023-07-31 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 33357406]. This variant is expected to disrupt protein structure [Myriad internal data].

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