ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5884+1G>A

gnomAD frequency: 0.00001  dbSNP: rs756689063
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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) RCV000733869 SCV000861972 pathogenic not provided 2018-06-26 criteria provided, single submitter clinical testing
Invitae RCV000809651 SCV000949815 pathogenic Qualitative or quantitative defects of dysferlin 2023-11-27 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 51 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 individual(s) with limb-girdle muscular dystrophy (PMID: 18853459, 33927379). ClinVar contains an entry for this variant (Variation ID: 597680). 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.
MGZ Medical Genetics Center RCV002290000 SCV002579429 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-11-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465667 SCV004192244 pathogenic Miyoshi muscular dystrophy 1 2023-03-14 criteria provided, single submitter clinical testing

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