ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.3497_3500del (p.Ala1166fs)

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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 RCV002904622 SCV003258143 pathogenic Congenital myasthenic syndrome 8 2021-12-20 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 AGRN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala1166Glyfs*71) in the AGRN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AGRN are known to be pathogenic (PMID: 24951643).

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