ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.3040C>T (p.Leu1014Phe)

dbSNP: rs79057512
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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 RCV001053318 SCV001217576 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2022-03-17 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1014 of the TRAPPC11 protein (p.Leu1014Phe). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 849374). This variant has not been reported in the literature in individuals affected with TRAPPC11-related conditions. This variant is present in population databases (rs79057512, gnomAD 0.02%).
Revvity Omics, Revvity RCV001053318 SCV003821005 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2019-05-23 criteria provided, single submitter clinical testing

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