ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.1901A>G (p.Asn634Ser)

gnomAD frequency: 0.00026  dbSNP: rs148567547
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517869 SCV000615833 uncertain significance not provided 2019-05-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000560192 SCV000654271 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 634 of the TRAPPC11 protein (p.Asn634Ser). This variant is present in population databases (rs148567547, 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: 448694). 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. 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.
Ambry Genetics RCV002527551 SCV003727906 uncertain significance Inborn genetic diseases 2024-07-05 criteria provided, single submitter clinical testing The c.1901A>G (p.N634S) alteration is located in exon 19 (coding exon 18) of the TRAPPC11 gene. This alteration results from a A to G substitution at nucleotide position 1901, causing the asparagine (N) at amino acid position 634 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000560192 SCV003823417 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2023-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000517869 SCV003935524 uncertain significance not provided 2023-07-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31597922, 28404951, 27270441)

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