ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2865-2A>C

dbSNP: rs886043964
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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) RCV000368085 SCV000342814 pathogenic not provided 2016-06-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000368085 SCV002021843 pathogenic not provided 2023-10-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003574727 SCV004292571 pathogenic Qualitative or quantitative defects of dysferlin 2023-11-13 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 26 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 not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with DYSF-related conditions (PMID: 26671124, 32400077). ClinVar contains an entry for this variant (Variation ID: 288644). 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.
Counsyl RCV000594701 SCV000791705 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-05-26 no assertion criteria provided clinical testing

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