ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.2230A>G (p.Ser744Gly)

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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 RCV002710824 SCV003007582 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2022-02-25 criteria provided, single submitter clinical testing 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. 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. This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 744 of the TRAPPC11 protein (p.Ser744Gly). This variant is present in population databases (rs759792896, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with TRAPPC11-related conditions.

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