ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4059+1G>A

dbSNP: rs1229707459
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001950781 SCV002236783 pathogenic Qualitative or quantitative defects of dysferlin 2022-10-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as 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: 1455686). Disruption of this splice site has been observed in individuals with limb-girdle muscular dystrophy (PMID: 18853459). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 37 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).
Revvity Omics, Revvity RCV003490975 SCV004234854 pathogenic not provided 2023-07-13 criteria provided, single submitter clinical testing

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