ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.3604G>A (p.Glu1202Lys)

gnomAD frequency: 0.00001  dbSNP: rs368759902
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003492958 SCV004234986 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2023-07-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005100314 SCV005827265 uncertain significance not provided 2024-02-20 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1202 of the CDAN1 protein (p.Glu1202Lys). This variant is present in population databases (rs368759902, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CDAN1-related conditions. 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 disruptive. 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.

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