ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.2491A>C (p.Thr831Pro)

gnomAD frequency: 0.00020  dbSNP: rs200256582
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498735 SCV000590352 uncertain significance not provided 2017-06-12 criteria provided, single submitter clinical testing The T831P variant in the CDAN1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T831P variant is observed in 31/11564 (0.27%) alleles from individuals of Latino background, in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T831P variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret T831P as a variant of uncertain significance.
Mayo Clinic Laboratories, Mayo Clinic RCV000498735 SCV002541253 uncertain significance not provided 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000498735 SCV005763559 uncertain significance not provided 2024-08-29 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 831 of the CDAN1 protein (p.Thr831Pro). This variant is present in population databases (rs200256582, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with CDAN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 432604). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005230971 SCV005878911 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2024-02-06 criteria provided, single submitter clinical testing

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