ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9225-285A>G

dbSNP: rs587776747
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727267 SCV000707100 pathogenic not provided 2017-03-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000803254 SCV000943116 pathogenic Duchenne muscular dystrophy 2022-06-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant results in inclusion of a 58bp pseudoexon between exons 62 and 63 and introduces a premature termination codon (PMID: 32047267). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 11286). This variant is also known as IVS62-285A>G. This variant has been observed in individuals with Becker muscular dystrophy (PMID: 3393617, 12754707, 20485447, 32047267, 32669210; Invitae). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This sequence change falls in intron 62 of the DMD gene. It does not directly change the encoded amino acid sequence of the DMD protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.
Mendelics RCV000012038 SCV002519511 pathogenic Becker muscular dystrophy 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000012038 SCV000032272 pathogenic Becker muscular dystrophy 2003-06-01 no assertion criteria provided literature only

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