ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.961-4del

gnomAD frequency: 0.00009  dbSNP: rs759592382
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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 RCV001300499 SCV001489642 uncertain significance Duchenne muscular dystrophy 2024-11-03 criteria provided, single submitter clinical testing This sequence change falls in intron 9 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 (rs759592382, gnomAD 0.02%). 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: 1003878). 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 RCV002384355 SCV002694144 uncertain significance Cardiovascular phenotype 2019-07-09 criteria provided, single submitter clinical testing The c.961-4delG intronic variant, located in intron 9 of the DMD gene, results from a deletion of one nucleotide within intron 9 of the DMD gene. This nucleotide position is poorly conserved in available vertebrate species. Using the ESEfinder and the Human Splicing Finder (HSF) splice site prediction tools, this alteration does not have any significant effect on the native splice acceptor site; however, direct evidence is unavailable (Desmet FO et al. Nucleic Acids Res. 2009 May;37:e67). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830173 SCV002090431 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-25 no assertion criteria provided clinical testing

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