ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.2530C>T (p.Arg844Cys)

dbSNP: rs149626892
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500950 SCV000597533 uncertain significance not specified 2016-09-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001211088 SCV001382610 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2023-08-07 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TRAPPC11 protein function. ClinVar contains an entry for this variant (Variation ID: 437020). This variant has not been reported in the literature in individuals affected with TRAPPC11-related conditions. This variant is present in population databases (rs149626892, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 844 of the TRAPPC11 protein (p.Arg844Cys).
GeneDx RCV001805119 SCV002050644 uncertain significance not provided 2021-06-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27535533)
Ambry Genetics RCV002527301 SCV003694618 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.2530C>T (p.R844C) alteration is located in exon 23 (coding exon 22) of the TRAPPC11 gene. This alteration results from a C to T substitution at nucleotide position 2530, causing the arginine (R) at amino acid position 844 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001211088 SCV003821000 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2019-07-18 criteria provided, single submitter clinical testing

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