Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Embryology Laboratory, |
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. |
Gene |
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 | 2017-10-30 | no assertion criteria provided | literature only |