ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1149+4A>G

gnomAD frequency: 0.00002  dbSNP: rs761302882
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000311787 SCV000342123 uncertain significance not provided 2016-05-17 criteria provided, single submitter clinical testing
Invitae RCV001855200 SCV002168581 uncertain significance Qualitative or quantitative defects of dysferlin 2022-08-10 criteria provided, single submitter clinical testing 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. 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 disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 288116). This variant has been observed in individual(s) with clinical features of DYSF-related conditions (PMID: 25312915, 30564623; Invitae). This variant is present in population databases (rs761302882, gnomAD 0.01%). This sequence change falls in intron 11 of the DYSF gene. It does not directly change the encoded amino acid sequence of the DYSF protein. It affects a nucleotide within the consensus splice site.

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