ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2668G>T (p.Val890Phe) (rs786202628)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222312 SCV000275017 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507745 SCV000601537 uncertain significance not specified 2017-04-26 criteria provided, single submitter clinical testing
Color RCV000222312 SCV000904870 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-24 criteria provided, single submitter clinical testing
Invitae RCV000818639 SCV000959263 uncertain significance Hereditary nonpolyposis colon cancer 2018-10-31 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 890 of the MSH6 protein (p.Val890Phe). The valine residue is weakly conserved and there is a small physicochemical difference between valine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with colorectal polyposis (PMID: 27696107). ClinVar contains an entry for this variant (Variation ID: 231236). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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