ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.175C>A (p.Pro59Thr) (rs761033647)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000582619 SCV000690222 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-04 criteria provided, single submitter clinical testing
Invitae RCV000630169 SCV000751125 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2017-11-26 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 59 of the MSH6 protein (p.Pro59Thr). The proline residue is weakly conserved and there is a small physicochemical difference between proline and threonine. 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 not been reported in the literature in individuals with MSH6-related disease. ClinVar contains an entry for this variant (Variation ID: 202200). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their 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.
Mendelics RCV000184046 SCV000236577 uncertain significance Hereditary nonpolyposis colorectal cancer type 5 2016-05-13 no assertion criteria provided clinical testing

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