ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2266C>T (p.Gln756Ter)

dbSNP: rs1172643225
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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 RCV001982343 SCV002215504 pathogenic Qualitative or quantitative defects of dysferlin 2021-02-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with DYSF-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln738*) 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).
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989735 SCV004806387 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2024-03-25 criteria provided, single submitter clinical testing

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