ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.116G>A (p.Gly39Asp)

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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 RCV005076922 SCV005711440 uncertain significance Congenital myasthenic syndrome 12 2024-06-25 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 39 of the GFPT1 protein (p.Gly39Asp). This variant is present in population databases (rs774275311, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with GFPT1-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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