ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.895_896del (p.Phe299fs)

dbSNP: rs1337417322
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792716 SCV000932027 pathogenic Qualitative or quantitative defects of dysferlin 2020-03-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). This variant has been observed in several individuals affected with dysferlinopathies (PMID: 18853459, 25591676, 27647186). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe267Leufs*5) in the DYSF gene. It is expected to result in an absent or disrupted protein product.
Natera, Inc. RCV001830689 SCV002079772 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-12-27 no assertion criteria provided clinical testing

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