ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2409+1G>A

gnomAD frequency: 0.00001  dbSNP: rs151317754
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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) RCV000261362 SCV000334405 pathogenic not provided 2015-08-17 criteria provided, single submitter clinical testing
Invitae RCV001379694 SCV001577540 likely pathogenic Qualitative or quantitative defects of dysferlin 2023-04-26 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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: 282771). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. This variant is present in population databases (rs151317754, gnomAD 0.003%). This sequence change affects a donor splice site in intron 23 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).
Baylor Genetics RCV003463745 SCV004196515 pathogenic Miyoshi muscular dystrophy 1 2023-06-13 criteria provided, single submitter clinical testing
Counsyl RCV000349131 SCV000790537 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-03-29 no assertion criteria provided clinical testing

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