ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.1277T>C (p.Val426Ala)

gnomAD frequency: 0.00009  dbSNP: rs201263451
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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 RCV000696431 SCV000824993 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2022-09-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 426 of the TRAPPC11 protein (p.Val426Ala). This variant is present in population databases (rs201263451, gnomAD 0.02%). 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: 574490). 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.
GeneDx RCV001552223 SCV001772874 uncertain significance not provided 2019-11-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000696431 SCV003823432 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2022-01-18 criteria provided, single submitter clinical testing

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