ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3350G>A (p.Cys1117Tyr) (rs773245315)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000221433 SCV000279694 uncertain significance not provided 2015-12-15 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.3350G>A at the cDNA level, p.Cys1117Tyr (C1117Y) at the protein level, and results in the change of a Cysteine to a Tyrosine (TGT>TAT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH6 Cys1117Tyr 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 Cysteine and Tyrosine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. MSH6 Cys1117Tyr occurs at a position that is conserved in mammals and is located within the MutS domain V (Terui 2013). 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 MSH6 Cys1117Tyr is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000561440 SCV000669955 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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