ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.1588C>T (p.Arg530Trp)

dbSNP: rs1024585946
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753913 SCV001986333 uncertain significance not provided 2019-11-29 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 21310273, 29054425, 21975507)
Neurology Laboratory, The First Affiliated Hospital of Nanchang University RCV001733851 SCV001984980 pathogenic Congenital myasthenic syndrome 2021-08-22 no assertion criteria provided research The Arg512Trp variant in GFPT1 has been reported in 1 Spain and 1 Senegal families with autosomal recessive inheritance, segregated with the disease in several affected relatives (Natera-de Benito et al., 2017; Senderek et al., 2011), and was absent from large population studies. Allele frequency of gnomAD Database is only 0.000003978.Additionally, in vitro functional study indicates that the Arg512Trp variant reduces the level of GFPT1 and O-GlcNAcylation (Senderek et al., 2011). In summary, the Arg512Trp variant meets our criteria to be classified as pathogenic (www.partners.org/personalizedmedicine/lmm) based upon low frequency variation, absence from controls, and functional evidence.

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