ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.153dup (p.Asp52fs)

dbSNP: rs1557084128
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000459187 SCV000550315 pathogenic Duchenne muscular dystrophy 2016-10-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in DMD are known to be pathogenic (PMID: 16770791). This sequence change inserts 1 nucleotide in exon 3 of the DMD mRNA (c.153dupA), causing a frameshift at codon 52. This creates a premature translational stop signal (p.Asp52Argfs*37) and is expected to result in an absent or disrupted protein product.

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