ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter)

dbSNP: rs1553521017
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672170 SCV000797249 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2018-01-18 criteria provided, single submitter clinical testing
Invitae RCV001855574 SCV002220936 pathogenic Qualitative or quantitative defects of dysferlin 2023-06-03 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: 556201). This premature translational stop signal has been observed in individual(s) with DYSF-related conditions (PMID: 19493611, 25900324). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln176*) 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 RCV003459635 SCV004196496 pathogenic Miyoshi muscular dystrophy 1 2023-07-07 criteria provided, single submitter clinical testing
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000672170 SCV000891633 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-12-30 no assertion criteria provided curation

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