ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2697+5G>C

dbSNP: rs2092213253
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208442 SCV001379830 likely pathogenic Qualitative or quantitative defects of dysferlin 2019-09-06 criteria provided, single submitter clinical testing This sequence change falls in intron 25 of the DYSF gene. It does not directly change the encoded amino acid sequence of the DYSF protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another DYSF variant in an individual affected with dysferlinopathy (PMID: 27647186). Nucleotide substitutions within 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, but this prediction has not been confirmed by published transcriptional studies. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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