ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.551A>T (p.Tyr184Phe)

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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 RCV002670862 SCV002985993 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2023-07-03 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 expected to disrupt TRAPPC11 protein function. ClinVar contains an entry for this variant (Variation ID: 1943459). This variant has not been reported in the literature in individuals affected with TRAPPC11-related conditions. This variant is present in population databases (rs759812768, gnomAD 0.0009%). This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 184 of the TRAPPC11 protein (p.Tyr184Phe).
Ambry Genetics RCV004066771 SCV004971927 uncertain significance Inborn genetic diseases 2023-12-19 criteria provided, single submitter clinical testing The c.551A>T (p.Y184F) alteration is located in exon 5 (coding exon 4) of the TRAPPC11 gene. This alteration results from a A to T substitution at nucleotide position 551, causing the tyrosine (Y) at amino acid position 184 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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