ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.1291C>T (p.Arg431Ter)

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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 RCV003530730 SCV004275120 pathogenic Congenital myasthenic syndrome 12 2023-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg431*) in the GFPT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GFPT1 are known to be pathogenic (PMID: 23794683). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GFPT1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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