ClinVar Miner

Submissions for variant NC_000002.11:g.(?_69573016)_(69575486_?)del

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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 RCV003105717 SCV003793431 pathogenic Congenital myasthenic syndrome 12 2022-12-02 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 a gross deletion of the genomic region encompassing exon(s) 11-12 of the GFPT1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and 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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