ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4675-1G>A

dbSNP: rs2097921115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres RCV001264786 SCV001443088 pathogenic Duchenne muscular dystrophy criteria provided, single submitter clinical testing The c.4675-1G>A variant has been reported in Leiden Open (source) Variation Database (LOVD) version 3.0 ( https://databases.lovd.nl/shared/variants/0000675155#00000024 ) to be classified as pathogenic evidence.
Invitae RCV001264786 SCV004271115 pathogenic Duchenne muscular dystrophy 2023-09-22 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 33 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with clinical features of DMD-related conditions (PMID: 25972034, 34327855). ClinVar contains an entry for this variant (Variation ID: 984682). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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