ClinVar Miner

Submissions for variant NM_001382.4(DPAGT1):c.332T>G (p.Leu111Arg)

gnomAD frequency: 0.00001  dbSNP: rs759595271
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001370311 SCV001566782 uncertain significance DPAGT1-congenital disorder of glycosylation; Congenital myasthenic syndrome 13 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 111 of the DPAGT1 protein (p.Leu111Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is present in population databases (rs759595271, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with DPAGT1-related conditions. 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"). 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.

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