ClinVar Miner

Submissions for variant NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter)

gnomAD frequency: 0.00003  dbSNP: rs368115694
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001293858 SCV001482522 likely pathogenic Vertebral, cardiac, renal, and limb defects syndrome 3 2020-12-15 criteria provided, single submitter research ACMG codes:PVS1, PM2
Embryology Laboratory, Victor Chang Cardiac Research Institute RCV001293858 SCV004050823 pathogenic Vertebral, cardiac, renal, and limb defects syndrome 3 2023-05-10 criteria provided, single submitter research This variant was found in compound heterozygosity with the pathogenic variant c.1717G>A.

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