ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5785-1G>C

dbSNP: rs751473506
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665467 SCV000789597 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-02-07 criteria provided, single submitter clinical testing
Invitae RCV000823836 SCV000964707 likely pathogenic Qualitative or quantitative defects of dysferlin 2023-01-01 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: 550665). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. This variant is present in population databases (rs751473506, gnomAD 0.0009%). This sequence change affects an acceptor splice site in intron 50 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 RCV003465443 SCV004194566 likely pathogenic Miyoshi muscular dystrophy 1 2022-07-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000665467 SCV002080336 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-07-26 no assertion criteria provided clinical testing

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