ClinVar Miner

Submissions for variant NM_003937.3(KYNU):c.1282C>T (p.Arg428Trp)

gnomAD frequency: 0.00001  dbSNP: rs147475752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV001256673 SCV001433047 pathogenic Catel-Manzke syndrome 2012-01-07 criteria provided, single submitter research
GeneDx RCV003313200 SCV004012760 likely pathogenic not provided 2023-01-10 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect (Szot et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 31923704, 33942433)
Embryology Laboratory, Victor Chang Cardiac Research Institute RCV001391067 SCV001449139 pathogenic Congenital NAD deficiency disorder 2020-11-11 no assertion criteria provided research This variant, c.1282C>T, was found in compound heterozygosity with the pathogenic variant c.489del

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