ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3173_3177del (p.Arg1058fs)

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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 RCV003337822 SCV004048164 likely pathogenic Miyoshi muscular dystrophy 1 criteria provided, single submitter clinical testing This variant causes a frameshift starting with codon Arginine 1058, changes this amino acid to Leucine residue, and creates a premature Stop codon at position 72 of the new reading frame, denoted p.Arg1058LeufsTer72. This variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. For these reasons, this variant has been classified as Likely Pathogenic.

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