ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2217-2A>G

gnomAD frequency: 0.00001  dbSNP: rs747289205
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726460 SCV000344837 pathogenic not provided 2016-09-18 criteria provided, single submitter clinical testing
Counsyl RCV000326270 SCV000789637 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-02-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000726460 SCV002024447 likely pathogenic not provided 2021-08-27 criteria provided, single submitter clinical testing
Invitae RCV001859714 SCV002313048 pathogenic Qualitative or quantitative defects of dysferlin 2023-12-09 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 22 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). This variant is present in population databases (rs747289205, gnomAD 0.007%). Disruption of this splice site has been observed in individual(s) with DYSF-related conditions (PMID: 19528035, 33715265). ClinVar contains an entry for this variant (Variation ID: 290309). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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