ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2598G>A (p.Met866Ile) (rs1064795368)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482945 SCV000571113 uncertain significance not provided 2016-07-21 criteria provided, single submitter clinical testing This variant is denoted MSH2 c.2598G>A at the cDNA level, p.Met866Ile (M866I) at the protein level, and results in the change of a Methionine to an Isoleucine (ATG>ATA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH2 Met866Ile was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Methionine and Isoleucine share similar properties, this is considered a conservative amino acid substitution. MSH2 Met866Ile occurs at a position that is not conserved and is located in the Helix-turn-helix domain (Lützen 2008). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether MSH2 Met866Ile is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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