ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.112C>T (p.Pro38Ser) (rs764009461)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479105 SCV000567920 uncertain significance not provided 2016-04-15 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.112C>T at the cDNA level, p.Pro38Ser (P38S) at the protein level, and results in the change of a Proline to a Serine (CCC>TCC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH6 Pro38Ser 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 Proline and Serine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. MSH6 Pro38Ser occurs at a position that is not conserved and is not located in a known functional domain (Kariola 2002, Terui 2013). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether MSH6 Pro38Ser is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000575631 SCV000662373 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000575631 SCV000908336 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-30 criteria provided, single submitter clinical testing

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