ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.1702C>T (p.Arg568Ter)

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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 RCV003112145 SCV003786417 pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18 2024-08-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg568*) in the TRAPPC11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TRAPPC11 are known to be pathogenic (PMID: 23830518, 26322222). This variant is present in population databases (rs200561007, 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: 2418901). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV003112145 SCV004032472 pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18 2023-07-13 criteria provided, single submitter clinical testing

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