ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.3086C>T (p.Ser1029Leu)

gnomAD frequency: 0.00014  dbSNP: rs201494083
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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 RCV000820066 SCV000960760 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1029 of the TRAPPC11 protein (p.Ser1029Leu). This variant is present in population databases (rs201494083, gnomAD 0.01%), including at least one homozygous and/or hemizygous individual. 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: 662428). 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 RCV002535514 SCV003742340 uncertain significance Inborn genetic diseases 2024-07-31 criteria provided, single submitter clinical testing The c.3086C>T (p.S1029L) alteration is located in exon 28 (coding exon 27) of the TRAPPC11 gene. This alteration results from a C to T substitution at nucleotide position 3086, causing the serine (S) at amino acid position 1029 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000820066 SCV003820981 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2019-08-14 criteria provided, single submitter clinical testing

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