ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.2185T>G (p.Leu729Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003388966 SCV004100916 uncertain significance Anemia, congenital dyserythropoietic, type 1a criteria provided, single submitter clinical testing The missense variant p.L729V in CDAN1 (NM_138477.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.L729V variant is observed in 7/1,13,766 (0.0062%) alleles from individuals of European (Non-Finnish) background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.L729V missense variant is predicted to be damaging by both SIFT and PolyPhen2. The leucine residue at codon 729 of CDAN1 is conserved in all mammalian species. The nucleotide c.2185 in CDAN1 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV003481495 SCV004227372 uncertain significance not provided 2023-02-28 criteria provided, single submitter clinical testing PM2

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