ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.3400T>C (p.Ter1134Arg)

gnomAD frequency: 0.00021  dbSNP: rs142222368
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000699661 SCV000828381 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2022-09-08 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the TRAPPC11 mRNA. It is expected to extend the length of the TRAPPC11 protein by 23 additional amino acid residues. This variant is present in population databases (rs142222368, gnomAD 0.04%). 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: 577012). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Athena Diagnostics RCV000993347 SCV001146235 uncertain significance not provided 2019-08-16 criteria provided, single submitter clinical testing
GeneDx RCV000993347 SCV001982352 uncertain significance not provided 2021-09-09 criteria provided, single submitter clinical testing Normal stop codon changed to an Arginine codon, leading to the addition of 23 amino acids at the C-terminus; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000699661 SCV003823411 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2022-09-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994087 SCV004813220 uncertain significance not specified 2024-02-19 criteria provided, single submitter clinical testing Variant summary: TRAPPC11 c.3400T>C (p.X1134ArgextX23) changes the termination codon and is predicted to lead to an extended protein with additional amino acids added to the normal C-terminus. The variant allele was found at a frequency of 0.00021 (i.e. reported in 338 carriers) in 1607074 control chromosomes (gnomAD v4.0). This frequency is not higher than the estimated maximum expected for a pathogenic variant in TRAPPC11 causing Limb-Girdle Muscular Dystrophy, Autosomal Recessive (0.00072), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.3400T>C in individuals affected with Limb-Girdle Muscular Dystrophy, Autosomal Recessive and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 577012). Based on the evidence outlined above, the variant was classified as uncertain significance.

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