ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2636A>C (p.Gln879Pro)

dbSNP: rs1064793822
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486454 SCV000567118 uncertain significance not provided 2015-07-09 criteria provided, single submitter clinical testing This variant is denoted MSH2 c.2636A>C at the cDNA level, p.Gln879Pro (Q879P) at the protein level, and results in the change of a Glutamine to a Proline (CAA>CCA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH2 Gln879Pro 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 Glutamine and Proline differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. MSH2 Gln879Pro occurs at a position that is conserved in mammals and is located in the helix-turn-helix domain (Lutzen 2008). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether MSH2 Gln879Pro is pathogenic or benign. We consider it to be a variant of uncertain significance.

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