ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.330_331delinsAG (p.Arg111Gly)

dbSNP: rs1671532532
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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 RCV001239020 SCV001411865 uncertain significance Congenital myasthenic syndrome 12 2021-08-17 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. This variant disrupts the p.Arg111 amino acid residue in GFPT1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 21310273, 23794683, 28712002). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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 arginine with glycine at codon 111 of the GFPT1 protein (p.Arg111Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine.

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