ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3113dup (p.Glu1039fs)

dbSNP: rs753711667
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001895425 SCV002149255 pathogenic Qualitative or quantitative defects of dysferlin 2023-07-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1381552). This premature translational stop signal has been observed in individual(s) with DYSF-related conditions (PMID: 17070050, 23406536, 27666772). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Glu1021Glyfs*11) in the DYSF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480).
Baylor Genetics RCV004571511 SCV005060291 pathogenic Miyoshi muscular dystrophy 1 2023-12-14 criteria provided, single submitter clinical testing

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