ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.1273C>G (p.Pro425Ala)

gnomAD frequency: 0.00001  dbSNP: rs191247450
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508376 SCV001714497 uncertain significance not provided 2020-05-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001508376 SCV003512745 uncertain significance not provided 2022-05-30 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 425 of the CDAN1 protein (p.Pro425Ala). This variant is present in population databases (rs191247450, gnomAD 0.07%). 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: 1163374). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.
Revvity Omics, Revvity RCV003145679 SCV003829414 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2021-11-12 criteria provided, single submitter clinical testing

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