ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3328C>T (p.Pro1110Ser) (rs374070511)

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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 RCV000166804 SCV000217618 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Insufficient or conflicting evidence
Invitae RCV000701255 SCV000830046 uncertain significance Hereditary nonpolyposis colon cancer 2018-01-15 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 1110 of the MSH6 protein (p.Pro1110Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs374070511, ExAC 0.02%). This variant has not been reported in the literature in individuals with MSH6-related disease. ClinVar contains an entry for this variant (Variation ID: 187114). An algorithm developed specifically for the MSH6 gene suggests that this missense change is likely to be tolerated (PMID: 23621914). However, this prediction has not been confirmed by published functional studies and its clinical significance is uncertain. 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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