ClinVar Miner

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

gnomAD frequency: 0.00002  dbSNP: rs398123763
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000711544 SCV000339537 pathogenic not provided 2016-02-23 criteria provided, single submitter clinical testing
Invitae RCV000700616 SCV000829378 pathogenic Qualitative or quantitative defects of dysferlin 2024-01-11 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. 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 (rs398123763, gnomAD 0.007%). Disruption of this splice site has been observed in individual(s) with clinical features of dysferlinopathy (PMID: 24488599, 33610434). 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. For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics Inc RCV000711544 SCV000841922 pathogenic not provided 2018-03-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763501 SCV000894291 likely pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV003466976 SCV004192256 pathogenic Miyoshi muscular dystrophy 1 2023-02-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000711544 SCV004234855 pathogenic not provided 2023-08-15 criteria provided, single submitter clinical testing
Counsyl RCV000174082 SCV000791948 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-06-01 no assertion criteria provided clinical testing

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