ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) (rs143762717)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724811 SCV000231347 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000179146 SCV000715709 likely benign not specified 2017-02-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000352290 SCV000431852 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401726 SCV000431853 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000525439 SCV000649737 uncertain significance Dysferlinopathy 2018-03-14 criteria provided, single submitter clinical testing This sequence change affects codon 2019 of the DYSF mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DYSF protein. This variant is present in population databases (rs143762717, ExAC 0.07%). This variant has not been reported in the literature in individuals with a DYSF-related disease. ClinVar contains an entry for this variant (Variation ID: 197967). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant has uncertain impact on DYSF function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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