ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.759+1G>C

dbSNP: rs398123800
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000790678 SCV000231669 pathogenic not provided 2016-11-21 criteria provided, single submitter clinical testing
Invitae RCV001386483 SCV001586720 pathogenic Qualitative or quantitative defects of dysferlin 2021-05-27 criteria provided, single submitter clinical testing This variant is present in population databases (rs398123800, ExAC 0.01%). This sequence change affects a donor splice site in intron 6 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 has been observed in individual(s) with congenital myopathy (PMID: 12410383). This variant is also known as G1036+1C. ClinVar contains an entry for this variant (Variation ID: 94355). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant disrupts mRNA splicing and is expected to lead to the loss of protein expression (PMID: 25312915).
Fulgent Genetics, Fulgent Genetics RCV002498413 SCV002811611 pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2021-12-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV003474681 SCV004194236 pathogenic Miyoshi muscular dystrophy 1 2023-08-08 criteria provided, single submitter clinical testing
Counsyl RCV000179423 SCV000797232 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2018-01-17 no assertion criteria provided clinical testing

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