ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.29A>G (p.Tyr10Cys)

dbSNP: rs1553393940
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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 RCV000552714 SCV000652545 uncertain significance Congenital myasthenic syndrome 12 2018-04-25 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This sequence change replaces tyrosine with cysteine at codon 10 of the GFPT1 protein (p.Tyr10Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine.

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