ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.188C>G (p.Ser63Cys) (rs587779920)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459237 SCV000551105 uncertain significance Hereditary nonpolyposis colon cancer 2018-10-11 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 63 of the MSH6 protein (p.Ser63Cys). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and cysteine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in an individual affected with endometrial cancer (PMID: 27443514). ClinVar contains an entry for this variant (Variation ID: 410430). 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: "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.
Ambry Genetics RCV000572922 SCV000669940 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000572922 SCV000685237 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-18 criteria provided, single submitter clinical testing
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761153 SCV000891069 uncertain significance Pilocytic astrocytoma 2017-06-10 no assertion criteria provided clinical testing

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