ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.31+4A>G

dbSNP: rs1557300092
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660434 SCV000782524 uncertain significance Dilated cardiomyopathy 3B 2016-11-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001320189 SCV001510965 uncertain significance Duchenne muscular dystrophy 2022-03-19 criteria provided, single submitter clinical testing This sequence change falls in intron 1 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 not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of DMD-related conditions (PMID: 33144682). ClinVar contains an entry for this variant (Variation ID: 547885). 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 may disrupt the consensus splice site. 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.

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