ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter)

dbSNP: rs1553543506
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517890 SCV000613185 pathogenic not provided 2017-01-17 criteria provided, single submitter clinical testing
Invitae RCV001382905 SCV001581864 pathogenic Qualitative or quantitative defects of dysferlin 2023-07-25 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: 447282). This premature translational stop signal has been observed in individuals with clinical features of DYSF-related conditions (PMID: 12796534, 17698709, 18853459). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr586*) 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).
Natera, Inc. RCV001834663 SCV002079829 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-06-16 no assertion criteria provided clinical testing

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