ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.4217_4218del (p.Gln1406fs)

gnomAD frequency: 0.00001  dbSNP: rs770470615
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783312 SCV002023758 pathogenic Congenital myasthenic syndrome 8 2021-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001783312 SCV005770094 pathogenic Congenital myasthenic syndrome 8 2024-08-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1406Argfs*29) 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 (rs770470615, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with arthrogryposis multiplex congenita (PMID: 33820833). ClinVar contains an entry for this variant (Variation ID: 1322937). For these reasons, this variant has been classified as Pathogenic.

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