ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.769_772del (p.Ser257fs)

dbSNP: rs2104639109
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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 RCV001950902 SCV002234323 pathogenic Congenital myasthenic syndrome 12 2021-12-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with GFPT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser257Valfs*28) 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).

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