ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.3003dup (p.Gly1002fs)

dbSNP: rs763573703
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229527 SCV001401974 pathogenic Congenital myasthenic syndrome 8 2023-08-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1002Argfs*58) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with AGRN-related conditions. ClinVar contains an entry for this variant (Variation ID: 956674). For these reasons, this variant has been classified as Pathogenic.

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