ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1577-1646C>T

gnomAD frequency: 0.00003  dbSNP: rs763227235
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001340968 SCV001534803 uncertain significance Qualitative or quantitative defects of dysferlin 2021-08-20 criteria provided, single submitter clinical testing This sequence change falls in intron 17 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 of the intron. This variant is present in population databases (rs763227235, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. 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. 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.
Natera, Inc. RCV001831067 SCV002079812 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-03-04 no assertion criteria provided clinical testing

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