ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.784A>G (p.Thr262Ala)

dbSNP: rs1050965809
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001922296 SCV002156898 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2021-10-24 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 262 of the TRAPPC11 protein (p.Thr262Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. 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. 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. This variant has not been reported in the literature in individuals affected with TRAPPC11-related conditions. This variant is not present in population databases (ExAC no frequency).

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