ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1149+1G>A (rs398123763)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711544 SCV000841922 pathogenic not provided 2018-03-31 criteria provided, single submitter clinical testing
Counsyl RCV000174082 SCV000791948 pathogenic Limb-girdle muscular dystrophy, type 2B 2017-06-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000711544 SCV000339537 pathogenic not provided 2016-02-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763501 SCV000894291 likely pathogenic Miyoshi muscular dystrophy 1; Limb-girdle muscular dystrophy, type 2B; Myopathy, distal, with anterior tibial onset 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000700616 SCV000829378 likely pathogenic Dysferlinopathy 2017-06-07 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 11 of the DYSF gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a DYSF-related disease. ClinVar contains an entry for this variant (Variation ID: 94262). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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: 25591676). 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.

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