ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1602+1G>A

dbSNP: rs1057517960
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413562 SCV000491189 pathogenic not provided 2017-08-18 criteria provided, single submitter clinical testing The c.1602+1 G>A variant has been reported previously in association with Becker muscular dystrophy (Deburgrave et al., 2007). This variant destroys the canonical splice donor site for intron 13. RNA analysis confirmed c.1602+1 G>A produces a full length DMD transcript, as well as a second in-frame transcript with exon 13 skipped, and results in decreased dystrophin (Deburgrave et al., 2007). This variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.

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