ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1480T>C (p.Ser494Pro) (rs55653533)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219106 SCV000277289 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000475338 SCV000548287 uncertain significance Hereditary nonpolyposis colon cancer 2018-12-26 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 494 of the MSH2 protein (p.Ser494Pro). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and proline. This variant is present in population databases (rs55653533, ExAC 0.05%). This variant has been observed in an individual affected with suspected Lynch syndrome (PMID: 25980754). ClinVar contains an entry for this variant (Variation ID: 233001). 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: "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.

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