ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2525C>G (p.Ala842Gly) (rs876660180)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217279 SCV000277389 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
GeneDx RCV000220185 SCV000279313 uncertain significance not provided 2015-11-30 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.2525C>G at the cDNA level, p.Ala842Gly (A842G) at the protein level, and results in the change of an Alanine to a Glycine (GCT>GGT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH6 Ala842Gly 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 Alanine and Glycine share similar properties, this is considered a conservative amino acid substitution. MSH6 Ala842Gly occurs at a position that is conserved across species and is located within MutS domain III (Terui 2013). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available information, it is unclear whether MSH6 Ala842Gly is pathogenic or benign. We consider it to be a variant of uncertain significance.

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