ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.4879+4G>A

gnomAD frequency: 0.00011  dbSNP: rs746457706
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062705 SCV001227521 uncertain significance Congenital myasthenic syndrome 8 2022-07-26 criteria provided, single submitter clinical testing This sequence change falls in intron 27 of the AGRN gene. It does not directly change the encoded amino acid sequence of the AGRN protein. It affects a nucleotide within the consensus splice site. 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: 857093). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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