ClinVar Miner

Submissions for variant NM_002056.4(GFPT1):c.1129A>G (p.Ser377Gly) (rs1553388422)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557475 SCV000652534 uncertain significance Congenital myasthenic syndrome 12 2017-04-13 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 377 of the GFPT1 protein (p.Ser377Gly). The serine residue is highly conserved and there is a small physicochemical difference between serine and glycine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a GFPT1-related disease. 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 disruptive, but these predictions have not been confirmed by published functional studies. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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