ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2864+1G>A (rs199954546)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital RCV000512137 SCV000607738 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-10-11 criteria provided, single submitter clinical testing ACMG: +PVS1 +PM2 +PP3
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000512137 SCV000746544 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-05-03 criteria provided, single submitter clinical testing
Counsyl RCV000512137 SCV000796693 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-12-22 criteria provided, single submitter clinical testing
Invitae RCV001217776 SCV001389628 pathogenic Qualitative or quantitative defects of dysferlin 2019-06-26 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 26 of the DYSF gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs199954546, ExAC 0.002%). Disruption of this splice site has been observed homozygous in an individual affected with dysferlinopathy (PMID: 17994539). This variant has also been observed heterozygous in several individuals affected with dysferlinopathy or Miyoshi myopathy (PMID: 18853459, 26000923). This variant is also known as IVS26+1G>A. ClinVar contains an entry for this variant (Variation ID: 443997). Donor and acceptor splice site variants 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). For these reasons, this variant has been classified as Pathogenic.
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences RCV001263253 SCV001441253 pathogenic Miyoshi muscular dystrophy 1 2020-10-23 no assertion criteria provided clinical testing Since age of 15, the patient developed bilateral foot plantar flexion weakness, difficulty climbing upstairs and some wasting of calf muscles. CK had been elevated and the EMG was myopathic.

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