ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.964C>T (p.Arg322Ter)

gnomAD frequency: 0.00001  dbSNP: rs375268742
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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 RCV001065092 SCV001230031 pathogenic Congenital myasthenic syndrome 12 2022-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg322*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 859066). This variant is also known as c.910C>T (p.Arg304X). This premature translational stop signal has been observed in individual(s) with congenital myasthenic syndrome (PMID: 23794683). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs375268742, gnomAD 0.007%).

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