ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1139A>T (p.Asp380Val) (rs1114167779)

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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 RCV000491873 SCV000580341 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000695797 SCV000824318 uncertain significance Hereditary nonpolyposis colon cancer 2018-06-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 380 of the MSH6 protein (p.Asp380Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. 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: 428416). 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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