ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.951+1del

dbSNP: rs786200898
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236174 SCV001408887 pathogenic Qualitative or quantitative defects of dysferlin 2023-11-20 criteria provided, single submitter clinical testing This sequence change affects a splice site in intron 8 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 (rs786200898, gnomAD 0.009%). Disruption of this splice site has been observed in individual(s) with dysferlin deficient muscular dystrophy (PMID: 16010686, 18306167, 19528035). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 6684). 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 RCV003466825 SCV004192274 pathogenic Miyoshi muscular dystrophy 1 2022-12-17 criteria provided, single submitter clinical testing
OMIM RCV000007071 SCV000027267 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2008-03-01 no assertion criteria provided literature only
Natera, Inc. RCV000007071 SCV002079773 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-11-23 no assertion criteria provided clinical testing

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