ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5574_5575del (p.His1858fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338204 SCV004047214 likely pathogenic Duchenne muscular dystrophy criteria provided, single submitter clinical testing The frame shift variant c.5574_5575del (p.His1858GlnfsTer29) in DMD gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.His1858GlnfsTer29 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant causes a frameshift starting with codon Histidine 1858, changes this amino acid to Glutamine residue, and creates a premature Stop codon at position 29 of the new reading frame, denoted p.His1858GlnfsTer29. For these reasons, this variant has been classified as Likely Pathogenic

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