ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.6615-2A>G

dbSNP: rs1557011973
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001090164 SCV001190358 pathogenic Duchenne muscular dystrophy 2020-03-11 criteria provided, single submitter clinical testing A hemizygous 3'splice site variation in intron 45 of the DMD gene that affects the invariant AG acceptor splice site of exon 46 was detected. The observed variant c.6615-2A>G has not been reported in the 1000 genomes and ExAC databases. The in silico prediction of the variant is damaging by MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic.

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