ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.3229del (p.Ala1077fs)

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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 RCV003747577 SCV004547728 pathogenic Congenital myasthenic syndrome 8 2023-06-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala1077Profs*161) 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). This variant is present in population databases (rs762176416, gnomAD 0.001%). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with AGRN-related conditions.

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