ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1274_1276+4dup

dbSNP: rs768425085
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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) RCV000726448 SCV000701424 pathogenic not provided 2016-08-08 criteria provided, single submitter clinical testing
Counsyl RCV000592945 SCV000795194 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-11-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465331 SCV004194574 likely pathogenic Miyoshi muscular dystrophy 1 2022-02-16 criteria provided, single submitter clinical testing
Invitae RCV003574783 SCV004353557 uncertain significance Qualitative or quantitative defects of dysferlin 2023-06-30 criteria provided, single submitter clinical testing This sequence change falls in intron 12 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 present in population databases (rs768425085, gnomAD 0.004%). This variant has been observed in individual(s) with DYSF-related conditions (PMID: 18832576). ClinVar contains an entry for this variant (Variation ID: 497131). 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 is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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