ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4802dup (p.Met1601fs)

gnomAD frequency: 0.00003  dbSNP: rs778065845
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000326568 SCV000340277 pathogenic not provided 2016-03-16 criteria provided, single submitter clinical testing
Invitae RCV001070067 SCV001235276 pathogenic Qualitative or quantitative defects of dysferlin 2023-07-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met1562Ilefs*39) 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). This variant is present in population databases (rs778065845, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with dysferlinopathy (PMID: 20544924). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 286729).
Baylor Genetics RCV003469240 SCV004192246 pathogenic Miyoshi muscular dystrophy 1 2023-03-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828234 SCV002082342 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-08-19 no assertion criteria provided clinical testing

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