ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.763C>T (p.His255Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1237348034
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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 RCV001239141 SCV001411992 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2023-08-17 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 255 of the TRAPPC11 protein (p.His255Tyr). This variant is not present in population databases (gnomAD no frequency). 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. 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. ClinVar contains an entry for this variant (Variation ID: 964832). This variant has not been reported in the literature in individuals affected with TRAPPC11-related conditions.
GeneDx RCV005094160 SCV005848859 uncertain significance not provided 2024-08-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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