ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1276_1276+7del

dbSNP: rs2152748721
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001381502 SCV001579929 pathogenic Qualitative or quantitative defects of dysferlin 2024-04-29 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 12 (c.1180_1180+7del) of the DYSF gene. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with limb-girdle muscular dystrophy and Miyoshi myopathy (PMID: 21392994). ClinVar contains an entry for this variant (Variation ID: 1069589). Studies have shown that this variant results in skipping of exons 12-13, but is expected to preserve the integrity of the reading-frame (PMID: 21392994). For these reasons, this variant has been classified as Pathogenic.

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