ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2864+5G>A (rs886044131)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000342909 SCV000343572 uncertain significance not provided 2016-07-11 criteria provided, single submitter clinical testing
Invitae RCV000647998 SCV000769808 likely pathogenic Dysferlinopathy 2018-09-28 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, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous or in combination with another DYSF variant in individuals affected with DYSF-related conditions (PMID: 27647186, Invitae). ClinVar contains an entry for this variant (Variation ID: 289245). Nucleotide substitutions within 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, but this prediction has not been confirmed by published transcriptional studies. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Counsyl RCV000668205 SCV000792770 uncertain significance Limb-girdle muscular dystrophy, type 2B 2017-07-12 criteria provided, single submitter clinical testing

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