ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.1610A>C (p.Glu537Ala)

gnomAD frequency: 0.00001  dbSNP: rs988021644
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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 RCV001325322 SCV001516312 uncertain significance Congenital myasthenic syndrome 12 2020-02-28 criteria provided, single submitter clinical testing 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with GFPT1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with alanine at codon 537 of the GFPT1 protein (p.Glu537Ala). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and alanine.
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV001325322 SCV005187343 likely pathogenic Congenital myasthenic syndrome 12 2024-08-13 criteria provided, single submitter clinical testing The variant has been detected in compound heterozygosity with a pathogenic variant in GFTP1. It has a low frequency in large population databases and is not reported in homozygosity among controls. Bioinformatic prediction tools indicate a possible pathogenicity of the variant. We have therefore classified the variant as likely pathogenic (PM2, PM3, PP2, PP3).

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