ClinVar Miner

Submissions for variant NM_004341.5(CAD):c.5737dup (p.Gln1913fs)

dbSNP: rs1159635090
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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 RCV001922560 SCV002168008 pathogenic not provided 2024-03-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1913Profs*59) in the CAD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CAD are known to be pathogenic (PMID: 28007989, 32117025, 32820246, 33497533). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CAD-related conditions. ClinVar contains an entry for this variant (Variation ID: 1398412). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005023404 SCV005655944 likely pathogenic Developmental and epileptic encephalopathy, 50 2024-02-25 criteria provided, single submitter clinical testing

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