ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.2708A>G (p.Glu903Gly)

gnomAD frequency: 0.00001  dbSNP: rs1398795151
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694435 SCV000822881 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 903 of the TRAPPC11 protein (p.Glu903Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with TRAPPC11-related conditions. 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.
GeneDx RCV002272334 SCV002558300 uncertain significance not provided 2022-01-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000694435 SCV003823399 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2019-07-18 criteria provided, single submitter clinical testing

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