ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4684del (p.Arg1562fs)

dbSNP: rs2147473202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706826 SCV001934345 pathogenic Dilated cardiomyopathy 3B 2020-12-01 criteria provided, single submitter clinical testing This variant was identified as hemizygous.
Neuberg Centre For Genomic Medicine, NCGM RCV003339723 SCV004046961 likely pathogenic Duchenne muscular dystrophy criteria provided, single submitter clinical testing The frameshift DMD c.4684del (p.Arg1562GlufsTer9) variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg1562GlufsTer9 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant has been submitted in ClinVar as Pathogenic, but no details are available for independent assessment. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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