ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.93C>T (p.Gly31=) (rs370817805)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421960 SCV000521756 likely benign not specified 2017-11-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000540513 SCV000625023 uncertain significance Hereditary nonpolyposis colon cancer 2019-11-18 criteria provided, single submitter clinical testing This sequence change affects codon 31 of the MSH6 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MSH6 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 382003). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001019275 SCV001180610 likely benign Hereditary cancer-predisposing syndrome 2017-11-06 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color RCV001019275 SCV001359461 likely benign Hereditary cancer-predisposing syndrome 2016-05-10 criteria provided, single submitter clinical testing

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