ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4911+1G>T

gnomAD frequency: 0.00001  dbSNP: rs777216777
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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) RCV000397485 SCV000334024 pathogenic not provided 2015-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001223491 SCV001395643 likely pathogenic Qualitative or quantitative defects of dysferlin 2023-07-03 criteria provided, single submitter clinical testing 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. 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: 282513). Disruption of this splice site has been observed in individual(s) with autosomal recessive limb-girdle muscular dystrophy (PMID: 23243261). This variant is present in population databases (rs777216777, gnomAD 0.004%). This sequence change affects a donor splice site in intron 43 of the DYSF gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480).

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