ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.190G>C (p.Ala64Pro) (rs587779921)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000759850 SCV000149295 uncertain significance not provided 2014-02-07 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.190G>C at the cDNA level, p.Ala64Pro (A64P) at the protein level, and results in the change of an Alanine to a Proline (GCG>CCG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH6 Ala64Pro 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. The MSH6 Ala64Pro variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. The variant occurs at a position that is moderately conserved throughout evolution and is not located in a known functional domain. In silico analyses predict this variant to have a benign effect on protein structure and function. Based on currently available information, it is unclear whether MSH6 Ala64Pro is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000214011 SCV000274033 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000214011 SCV000685238 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759850 SCV000889467 uncertain significance not provided 2018-05-04 criteria provided, single submitter clinical testing

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