ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.2760del (p.Ser921fs)

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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 RCV005177199 SCV005816206 pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18 2024-08-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser921Hisfs*18) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TRAPPC11-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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