ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2105C>T (p.Ser702Leu) (rs63751419)

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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 RCV000129429 SCV000184199 uncertain significance Hereditary cancer-predisposing syndrome 2014-01-21 criteria provided, single submitter clinical testing
Invitae RCV000630083 SCV000751039 uncertain significance Hereditary nonpolyposis colon cancer 2017-08-26 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 702 of the MSH6 protein (p.Ser702Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. 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 disease. ClinVar contains an entry for this variant (Variation ID: 141078). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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