ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3163G>C (p.Ala1055Pro) (rs587779254)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000114751 SCV000148649 likely pathogenic Lynch syndrome 2018-12-19 reviewed by expert panel curation Multifactorial likelihood analysis posterior probability >0.95
Ambry Genetics RCV000223291 SCV000277857 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-21 criteria provided, single submitter clinical testing Insufficient or inconclusive evidence
Color RCV000223291 SCV000685356 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-25 criteria provided, single submitter clinical testing
Invitae RCV001216258 SCV001388045 uncertain significance Hereditary nonpolyposis colon cancer 2019-10-23 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 1055 of the MSH6 protein (p.Ala1055Pro). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with clinical features of Lynch syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 126892). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; 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.

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