ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.738_739del (p.Gly247fs)

dbSNP: rs1553390600
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000512786 SCV000608944 pathogenic not provided 2020-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003645860 SCV004537322 pathogenic Congenital myasthenic syndrome 12 2023-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly247Glnfs*33) 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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