ClinVar Miner

Submissions for variant NM_018161.5(NADSYN1):c.1759G>A (p.Asp587Asn)

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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 RCV003759815 SCV004025913 likely 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.
PreventionGenetics, part of Exact Sciences RCV004753673 SCV005352044 uncertain significance NADSYN1-related disorder 2024-05-17 no assertion criteria provided clinical testing The NADSYN1 c.1759G>A variant is predicted to result in the amino acid substitution p.Asp587Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.028% of alleles in individuals of European (Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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