ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.190A>G (p.Lys64Glu)

dbSNP: rs1734713616
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001337449 SCV001531052 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2022-12-07 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 64 of the TRAPPC11 protein (p.Lys64Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TRAPPC11-related conditions. ClinVar contains an entry for this variant (Variation ID: 1034690). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TRAPPC11 protein function. 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.
Revvity Omics, Revvity RCV001337449 SCV003820982 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2022-05-05 criteria provided, single submitter clinical testing

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