ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2098C>A (p.Leu700Ile) (rs587779230)

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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 RCV000218126 SCV000277014 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000684784 SCV000283741 uncertain significance Hereditary nonpolyposis colon cancer 2018-03-30 criteria provided, single submitter clinical testing This sequence change replaces leucine with isoleucine at codon 700 of the MSH6 protein (p.Leu700Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MSH6-related disease. ClinVar contains an entry for this variant (Variation ID: 232785). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Illumina Clinical Services Laboratory,Illumina RCV000232938 SCV000430968 uncertain significance Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000218126 SCV000904790 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-25 criteria provided, single submitter clinical testing

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