ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.914_947del (p.Arg305fs)

dbSNP: rs1557700705
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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 RCV000696418 SCV000824979 pathogenic Congenital myasthenic syndrome 8 2018-02-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg305Leufs*18) in the AGRN gene. It is expected to result in an absent or disrupted protein product. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with AGRN-related disease. Loss-of-function variants in AGRN are known to be pathogenic (PMID: 24951643). For these reasons, this variant has been classified as Pathogenic.

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