ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.531-1G>C

dbSNP: rs1569526579
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693051 SCV000820905 pathogenic Duchenne muscular dystrophy 2023-09-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 571814). Disruption of this splice site has been observed in individuals with DMD-related muscular dystrophy (PMID: 21515508; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 6 of the DMD gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885).
Mendelics RCV000693051 SCV001141782 pathogenic Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing

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