ClinVar Miner

Submissions for variant NM_003937.3(KYNU):c.468T>A (p.Tyr156Ter)

gnomAD frequency: 0.00005  dbSNP: rs758865880
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Embryology Laboratory, Victor Chang Cardiac Research Institute RCV000496184 SCV000540922 pathogenic Congenital NAD deficiency disorder 2016-12-23 criteria provided, single submitter research This variant was discovered in a North American family. The patient presented multiple congenital malformations affecting vertebrae, heart, kidney among others. This variant is a protein truncating variant and extremely rare (ExAC MAF 0.0001419). The patient is compound heterzygous for this variant and another protein truncating variant in the same KYNU gene (NM_003937.2:c.1045_1051delTTTAAGC). Her unaffected parents are heterzygous for only one variant. Enzyme assay confirmed that the protein product of this gene variant has lost enzyme activity. Mouse embryos homozygous null for Kynu presented similar phenotype as observed in the patient, and also showed reduced concentration of NAD in the embryonic tissue.
GeneDx RCV000522905 SCV000617867 pathogenic not provided 2023-10-11 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 28792876, 24463508, 31589614, 34200361)
OMIM RCV000505808 SCV000600001 pathogenic Vertebral, cardiac, renal, and limb defects syndrome 2 2024-03-06 no assertion criteria provided literature only

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