ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3260C>T (p.Pro1087Leu) (rs63750753)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166383 SCV000217175 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or Conflicting Evidence
Invitae RCV000629923 SCV000750879 uncertain significance Hereditary nonpolyposis colon cancer 2017-12-08 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1087 of the MSH6 protein (p.Pro1087Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs63750753, ExAC 0.003%). This variant has been reported in an individual in the Universal Mutation Database (PMID: 23729658). ClinVar contains an entry for this variant (Variation ID: 186739). 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: "Benign"; Align-GVGD: "Class C65"). 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 RCV000166383 SCV000908414 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-18 criteria provided, single submitter clinical testing

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