ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.931C>T (p.Arg311Ter)

dbSNP: rs2104635880
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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 RCV001382030 SCV001580627 pathogenic Congenital myasthenic syndrome 12 2022-01-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1070025). 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.Arg311*) 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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