ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.2147C>A (p.Ala716Asp)

dbSNP: rs143990563
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001881287 SCV002143229 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2023-09-21 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 716 of the TRAPPC11 protein (p.Ala716Asp). This variant is present in population databases (rs143990563, 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: 1378704). 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 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 RCV002552273 SCV003574157 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.2147C>A (p.A716D) alteration is located in exon 20 (coding exon 19) of the TRAPPC11 gene. This alteration results from a C to A substitution at nucleotide position 2147, causing the alanine (A) at amino acid position 716 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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