ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.2804A>G (p.Glu935Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003727595 SCV004548653 uncertain significance not provided 2023-11-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 935 of the CDAN1 protein (p.Glu935Gly). This variant is present in population databases (rs371548844, gnomAD 0.04%). 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003764383 SCV004563463 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2023-10-18 criteria provided, single submitter clinical testing

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