ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.204+1G>C

dbSNP: rs1734714805
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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 RCV001223573 SCV001395729 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18 2019-05-07 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the TRAPPC11 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TRAPPC11 are known to be pathogenic (PMID: 23830518, 26322222). This variant has not been reported in the literature in individuals with TRAPPC11-related conditions.

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