ClinVar Miner

Submissions for variant NM_004341.5(CAD):c.1843-1G>A

dbSNP: rs769567624
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003556220 SCV004292103 pathogenic not provided 2024-01-08 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 12 of the CAD 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 CAD are known to be pathogenic (PMID: 28007989, 32117025, 32820246, 33497533). This variant is present in population databases (rs769567624, gnomAD 0.0009%). Disruption of this splice site has been observed in individual(s) with CAD-related conditions (PMID: 25678555). ClinVar contains an entry for this variant (Variation ID: 203465). Studies have shown that disruption of this splice site alters CAD gene expression (PMID: 25678555). 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.
OMIM RCV000185620 SCV000238532 pathogenic Developmental and epileptic encephalopathy, 50 2015-06-01 no assertion criteria provided literature only

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