ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1763A>G (p.His588Arg) (rs786202725)

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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 RCV000165680 SCV000216418 uncertain significance Hereditary cancer-predisposing syndrome 2014-09-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,Insufficient or conflicting evidence
Invitae RCV000206412 SCV000260012 uncertain significance Hereditary nonpolyposis colon cancer 2018-06-20 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 588 of the MSH6 protein (p.His588Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. 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: 186142). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably 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.
Color RCV000165680 SCV000685225 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-21 criteria provided, single submitter clinical testing
Counsyl RCV000662615 SCV000785277 uncertain significance Hereditary nonpolyposis colorectal cancer type 5 2017-06-23 criteria provided, single submitter clinical testing

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