ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.1766A>G (p.Gln589Arg)

gnomAD frequency: 0.00009  dbSNP: rs146053783
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001215623 SCV001387377 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 589 of the TRAPPC11 protein (p.Gln589Arg). This variant is present in population databases (rs146053783, gnomAD 0.03%). 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: 945081). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV001215623 SCV003820987 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2019-07-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163654 SCV003885656 uncertain significance Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.1766A>G (p.Q589R) alteration is located in exon 18 (coding exon 17) of the TRAPPC11 gene. This alteration results from a A to G substitution at nucleotide position 1766, causing the glutamine (Q) at amino acid position 589 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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