ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2864+5G>A

dbSNP: rs886044131
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000342909 SCV000343572 uncertain significance not provided 2016-07-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000647998 SCV000769808 pathogenic Qualitative or quantitative defects of dysferlin 2024-10-30 criteria provided, single submitter clinical testing This sequence change falls in intron 26 of the DYSF gene. It does not directly change the encoded amino acid sequence of the DYSF protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with DYSF-related conditions (PMID: 27647186, 30564623; internal data). ClinVar contains an entry for this variant (Variation ID: 289245). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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.
Counsyl RCV000668205 SCV000792770 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-07-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV004567837 SCV005060283 pathogenic Miyoshi muscular dystrophy 1 2024-01-05 criteria provided, single submitter clinical testing

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