ClinVar Miner

Submissions for variant NC_000002.11:g.(?_71838365)_(71840553_?)del

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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 RCV003113275 SCV003791360 pathogenic Qualitative or quantitative defects of dysferlin 2022-02-06 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 37-40 of the DYSF gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 23406536). This variant disrupts a region of the DYSF protein in which other variant(s) (p.Glu1335) have been determined to be pathogenic (PMID: 14678801, 21522182, 22194990). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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