ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.670A>G (p.Ile224Val)

gnomAD frequency: 0.00001  dbSNP: rs1489383761
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067466 SCV001232532 uncertain significance Congenital myasthenic syndrome 12 2019-01-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 224 of the GFPT1 protein (p.Ile224Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GFPT1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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