ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.2500C>T (p.Arg834Ter)

dbSNP: rs1645065317
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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 RCV001222098 SCV001394180 pathogenic Congenital myasthenic syndrome 8 2022-02-24 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: 950399). 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.Arg834*) 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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