ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.460+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1278864604
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665139 SCV000789207 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000694014 SCV000822439 pathogenic Qualitative or quantitative defects of dysferlin 2023-11-27 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. Disruption of this splice site has been observed in individuals with DYSF-related conditions (PMID: 36580222). This variant is also known as c.460+1G>A. ClinVar contains an entry for this variant (Variation ID: 550404). 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.
Neuberg Centre For Genomic Medicine, NCGM RCV000665139 SCV004171311 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B criteria provided, single submitter clinical testing
Natera, Inc. RCV000665139 SCV002079752 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-03-31 no assertion criteria provided clinical testing

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