ClinVar Miner

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

dbSNP: rs886044131
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Total submissions: 3
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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
Invitae RCV000647998 SCV000769808 pathogenic Qualitative or quantitative defects of dysferlin 2023-05-16 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 289245). This variant has been observed in individuals with DYSF-related conditions (PMID: 27647186, 30564623; Invitae). This variant is not present in population databases (gnomAD no frequency). 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. 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

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