ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.2941C>A (p.His981Asn)

dbSNP: rs777281515
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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 RCV001918892 SCV002186422 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2022-09-13 criteria provided, single submitter clinical testing 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 not expected to disrupt TRAPPC11 protein function. This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 981 of the TRAPPC11 protein (p.His981Asn). This variant is present in population databases (rs777281515, gnomAD 0.0009%). 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: 1411737).

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