ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2195C>G (p.Thr732Ser) (rs730881765)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160604 SCV000211200 uncertain significance not provided 2014-09-17 criteria provided, single submitter clinical testing This variant is denoted MSH2 c.2195C>G at the cDNA level, p.Thr732Ser (T732S) at the protein level, and results in the change of a Threonine to a Serine (ACT>AGT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH2 Thr732Ser was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Threonine and Serine share similar properties, this is considered a conservative amino acid substitution. MSH2 Thr732Ser occurs at a position that is highly conserved across species and is located in an ATPase doman (Lutzen 2008). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available information, it is unclear whether MSH2 Thr732Ser is pathogenic or benign. We consider it to be a variant of uncertain significance.

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