ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.1955C>T (p.Thr652Met)

dbSNP: rs781377676
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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 RCV001343638 SCV001537637 uncertain significance Congenital myasthenic syndrome 12 2022-02-04 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. 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. ClinVar contains an entry for this variant (Variation ID: 1040054). This variant has not been reported in the literature in individuals affected with GFPT1-related conditions. This variant is present in population databases (rs781377676, gnomAD 0.006%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 652 of the GFPT1 protein (p.Thr652Met).

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