ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) (rs766016391)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000178461 SCV000795634 likely pathogenic Limb-girdle muscular dystrophy, type 2B 2017-11-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724391 SCV000230544 pathogenic not provided 2016-10-02 criteria provided, single submitter clinical testing
Invitae RCV000527540 SCV000649694 pathogenic Dysferlinopathy 2018-10-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1478*) in the DYSF gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs766016391, ExAC 0.002%). This variant has been reported in the compound heterozygous state in 1 individual affected with LGMD and 1 individual affected with proximodistal myopathy (PMID: 25868377, 17698709). ClinVar contains an entry for this variant (Variation ID: 197433). Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709). For these reasons, this variant has been classified as Pathogenic.

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