ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1381-2A>G

dbSNP: rs786200897
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003574698 SCV004292555 pathogenic Qualitative or quantitative defects of dysferlin 2023-05-13 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 13 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 not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with DYSF-related conditions (PMID: 18306167, 19528035). ClinVar contains an entry for this variant (Variation ID: 6683). Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 25312915). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000007070 SCV005051754 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2024-02-01 criteria provided, single submitter curation
OMIM RCV000007070 SCV000027266 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2008-03-01 no assertion criteria provided literature only

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