ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) (rs121908959)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000080312 SCV000335577 pathogenic not provided 2015-09-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000080312 SCV000613217 pathogenic not provided 2017-05-15 criteria provided, single submitter clinical testing
GeneDx RCV000080312 SCV000680751 pathogenic not provided 2017-10-04 criteria provided, single submitter clinical testing The R1905X pathogenic variant in the DYSF gene has been previously reported, in the homozygous state or in conjunction with another DYSF variant, in individuals with varying DYSF-related disorders (Vilchez et al., 2005; Nguyen et al., 2005). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1905X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016).
Invitae RCV000808564 SCV000948676 pathogenic Qualitative or quantitative defects of dysferlin 2019-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1905*) in the DYSF gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121908959, ExAC 0.009%). This variant has been observed to segregate with dysferlinopathy in several families (PMID: 16087766). ClinVar contains an entry for this variant (Variation ID: 6676). Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007061 SCV000027257 pathogenic Miyoshi muscular dystrophy 1 2005-08-01 no assertion criteria provided literature only
OMIM RCV000007062 SCV000027258 pathogenic Myopathy, distal, with anterior tibial onset 2005-08-01 no assertion criteria provided literature only
Counsyl RCV000007063 SCV000788443 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-04-21 no assertion criteria provided clinical testing
OMIM RCV000007063 SCV000809055 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2005-08-01 no assertion criteria provided literature only

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