ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1501C>T (p.His501Tyr) (rs779411998)

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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 RCV000223633 SCV000276337 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbSNP, ESP, 1000 Genomes),Insufficient or Conflicting Evidence
Invitae RCV000467079 SCV000551169 uncertain significance Hereditary nonpolyposis colon cancer 2018-02-01 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 501 of the MSH6 protein (p.His501Tyr). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs779411998, ExAC 0.03%). This variant has not been reported in the literature in individuals with MSH6-related disease. ClinVar contains an entry for this variant (Variation ID: 232251). 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, 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 RCV000223633 SCV000685197 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-14 criteria provided, single submitter clinical testing

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