ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.6611dup (p.Arg2205fs)

dbSNP: rs863225007
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000201153 SCV000255744 pathogenic Duchenne muscular dystrophy 2014-04-29 criteria provided, single submitter clinical testing
GeneDx RCV000323030 SCV000329819 pathogenic not provided 2017-04-18 criteria provided, single submitter clinical testing The c.6611dupA pathogenic variant in the DMD gene has been reported previously in association with dystrophinopathy (Flanigan et al., 2009; Almomani et al., 2009). The duplication causes a frameshift starting with codon Arginine 2205, changes this amino acid to a Glutamic acid residue and creates a premature Stop codon at position 18 of the new reading frame, denoted p.Arg2205GlufsX18. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the c.6611dupA pathogenic variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
Eurofins Ntd Llc (ga) RCV000323030 SCV000332889 pathogenic not provided 2015-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000201153 SCV000550282 pathogenic Duchenne muscular dystrophy 2022-11-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2205Glufs*18) in the DMD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 217208). This premature translational stop signal has been observed in individuals with DMD-related muscular dystrophy (PMID: 19409785, 25972034). This variant is not present in population databases (gnomAD no frequency).
Revvity Omics, Revvity RCV000323030 SCV004234702 pathogenic not provided 2023-06-21 criteria provided, single submitter clinical testing

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