ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1482+3A>G

gnomAD frequency: 0.00002  dbSNP: rs368825354
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000382437 SCV000345817 uncertain significance not provided 2016-09-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000530227 SCV000625841 uncertain significance Duchenne muscular dystrophy 2024-11-24 criteria provided, single submitter clinical testing This sequence change falls in intron 12 of the DMD gene. It does not directly change the encoded amino acid sequence of the DMD protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs368825354, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 291117). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002392819 SCV002701169 uncertain significance Cardiovascular phenotype 2022-09-13 criteria provided, single submitter clinical testing The c.1482+3A>G intronic variant results from an A to G substitution 3 nucleotides after coding exon 12 in the DMD gene. Based on data from gnomAD, the G allele has an overall frequency of 0.0016% (3/182023) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was 0.0037% (3/81259) of European (non-Finnish) alleles. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782348 SCV005394394 uncertain significance not specified 2024-09-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828281 SCV002090365 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-01-02 no assertion criteria provided clinical testing

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