ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) (rs746873768)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201076 SCV000255766 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2012-08-16 criteria provided, single submitter clinical testing
GeneDx RCV000255415 SCV000322447 pathogenic not provided 2016-09-16 criteria provided, single submitter clinical testing The Q612X pathogenic nonsense variant in the DYSF gene has been reported previously in association withDYSF-related disorders in multiple patients who had a second pathogenic variant on their other DYSF allele(Anderson et al., 2000; Nguyen et al., 2007). The Q612X variant is predicted to cause loss of normal protein functioneither through protein truncation or nonsense-mediated mRNA decay.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000255415 SCV000331259 pathogenic not provided 2017-10-24 criteria provided, single submitter clinical testing
Invitae RCV000531181 SCV000649614 pathogenic Qualitative or quantitative defects of dysferlin 2019-07-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 612 (p.Gln612*) of 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. This particular variant has been reported in the literature in many individuals affected with limb girdle muscular dystrophy (PMID: 11053681, 25493284, 16010686, 18853459, 18276788, 18832576). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000763503 SCV000894293 pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Myopathy, distal, with anterior tibial onset 2018-10-31 criteria provided, single submitter clinical testing
Counsyl RCV000201076 SCV000798654 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2018-03-21 no assertion criteria provided clinical testing

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