ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1814T>C (p.Val605Ala) (rs1064794881)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482213 SCV000570145 uncertain significance not provided 2016-04-27 criteria provided, single submitter clinical testing This variant is denoted MSH2 c.1814T>C at the cDNA level, p.Val605Ala (V605A) at the protein level, and results in the change of a Valine to an Alanine (GTT>GCT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH2 Val605Ala 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 Valine and Alanine share similar properties, this is considered a conservative amino acid substitution. MSH2 Val605Ala occurs at a position where amino acids with properties similar to Valine are tolerated across species and is located in Lever domain as well as the region of interaction with EXO1 (Lützen 2008). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether MSH2 Val605Ala is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Color RCV000580848 SCV000684980 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-12 criteria provided, single submitter clinical testing

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