ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2865-7_2865-5del (rs761299898)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726931 SCV000704244 uncertain significance not provided 2016-12-25 criteria provided, single submitter clinical testing
GeneDx RCV000593722 SCV000719276 likely benign not specified 2017-05-12 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.
Invitae RCV000818144 SCV000958742 uncertain significance Dysferlinopathy 2018-11-07 criteria provided, single submitter clinical testing This sequence change falls in intron 26 of the DYSF gene. It does not directly change the encoded amino acid sequence of the DYSF protein. This variant is present in population databases (rs761299898, ExAC 0.007%). This variant has not been reported in the literature in individuals with DYSF-related disease. ClinVar contains an entry for this variant (Variation ID: 498969). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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