ClinVar Miner

Submissions for variant NM_003937.3(KYNU):c.170-1G>T (rs1135401744)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Embryology Laboratory,Victor Chang Cardiac Research Institute RCV000496147 SCV000540921 pathogenic Congenital NAD deficiency disorder 2016-12-23 criteria provided, single submitter research This variant was discovered in a consanguineous family of Middle East origin. The patient presented multiple congenital malformations affecting vertebrae, heart, kidney among others. This variant is a protein truncating variant and novel (ExAC MAF 0). The patient is homozygous, while her unaffected parents and four unaffected siblings are either wildtype or heterozygous for this 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.
OMIM RCV000505804 SCV000600000 pathogenic VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 2017-09-21 no assertion criteria provided literature only

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