ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.2194G>A (p.Glu732Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002947418 SCV003264462 uncertain significance not provided 2022-03-25 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with CDAN1-related conditions. This variant is present in population databases (rs376914210, gnomAD 0.008%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 732 of the CDAN1 protein (p.Glu732Lys).
Revvity Omics, Revvity RCV003146682 SCV003829397 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2022-06-30 criteria provided, single submitter clinical testing

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