ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.2014G>C (p.Val672Leu)

dbSNP: rs1415116624
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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 RCV000814311 SCV000954714 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 672 of the TRAPPC11 protein (p.Val672Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). 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.
Revvity Omics, Revvity RCV000814311 SCV003823421 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2019-12-24 criteria provided, single submitter clinical testing

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