ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1033+1G>A

gnomAD frequency: 0.00001  dbSNP: rs201869739
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000262780 SCV000338026 pathogenic not provided 2015-12-11 criteria provided, single submitter clinical testing
Invitae RCV000801493 SCV000941270 pathogenic Qualitative or quantitative defects of dysferlin 2023-09-08 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 10 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 (rs201869739, gnomAD 0.03%). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 94367). Disruption of this splice site has been observed in individuals with dysferlinopathies (PMID: 16100712, 22297152, 23243261, 25591676, 27363342).
Myriad Genetics, Inc. RCV001810422 SCV002060260 pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2021-11-08 criteria provided, single submitter clinical testing NM_003494.3(DYSF):c.937+1G>A is a canonical splice variant classified as pathogenic in the context of dysferlinopathy. c.937+1G>A has been observed in cases with relevant disease (PMID: 23243261, 27647186, 16100712, 18853459). Functional assessments of this variant are not available in the literature. c.937+1G>A has been observed in population frequency databases (gnomAD: EAS 0.03%). In summary, NM_003494.3(DYSF):c.937+1G>A is a canonical splice variant in a gene where loss of function is a known mechanism of disease, is predicted to disrupt protein function, and has been observed more frequently in cases with the relevant disease than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.
Revvity Omics, Revvity RCV000262780 SCV003823378 pathogenic not provided 2021-12-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003466991 SCV004194189 pathogenic Miyoshi muscular dystrophy 1 2023-10-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000173782 SCV001457611 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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