ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.660+5G>A

gnomAD frequency: 0.00001  dbSNP: rs770891745
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001047323 SCV001211273 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2022-08-04 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the TRAPPC11 gene. It does not directly change the encoded amino acid sequence of the TRAPPC11 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs770891745, gnomAD 0.004%). 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: 844472). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Revvity Omics, Revvity RCV001047323 SCV003823407 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2022-03-23 criteria provided, single submitter clinical testing
GeneDx RCV003317422 SCV004021826 uncertain significance not provided 2023-01-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Athena Diagnostics RCV003317422 SCV005620466 uncertain significance not provided 2023-12-21 criteria provided, single submitter clinical testing

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