ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.3309C>A (p.Phe1103Leu)

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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 RCV003067329 SCV003453812 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2022-03-01 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1103 of the TRAPPC11 protein (p.Phe1103Leu). This variant is present in population databases (rs777611107, gnomAD 0.03%), 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV003367972 SCV004072694 uncertain significance Inborn genetic diseases 2023-06-29 criteria provided, single submitter clinical testing The c.3309C>A (p.F1103L) alteration is located in exon 29 (coding exon 28) of the TRAPPC11 gene. This alteration results from a C to A substitution at nucleotide position 3309, causing the phenylalanine (F) at amino acid position 1103 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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