ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3403-2A>G

gnomAD frequency: 0.00002  dbSNP: rs370874727
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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) RCV000277199 SCV000333035 pathogenic not provided 2015-07-14 criteria provided, single submitter clinical testing
Invitae RCV000701150 SCV000829934 pathogenic Qualitative or quantitative defects of dysferlin 2023-11-28 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 30 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 (rs370874727, gnomAD 0.003%). Disruption of this splice site has been observed in individuals with clinical features of limb-girdle muscular dystrophy (PMID: 19528035; Invitae). ClinVar contains an entry for this variant (Variation ID: 196694). 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.
Baylor Genetics RCV003468863 SCV004194181 pathogenic Miyoshi muscular dystrophy 1 2023-10-10 criteria provided, single submitter clinical testing
Counsyl RCV000984258 SCV001132382 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-06-28 no assertion criteria provided clinical testing

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