ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3630del (p.Glu1211fs)

dbSNP: rs2098315232
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001237923 SCV001410714 pathogenic Duchenne muscular dystrophy 2019-08-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1211Lysfs*4) in the DMD gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Duchenne muscular dystrophy (PMID: 16770791). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001237923 SCV001810400 pathogenic Duchenne muscular dystrophy 2021-07-22 criteria provided, single submitter clinical testing
3billion, Medical Genetics RCV001237923 SCV002521873 pathogenic Duchenne muscular dystrophy 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000963833 / PMID: 16770791). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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