ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.1663A>G (p.Ser555Gly)

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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 RCV003492965 SCV004234997 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2023-02-28 criteria provided, single submitter clinical testing
Invitae RCV003732601 SCV004521397 uncertain significance not provided 2023-11-04 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 555 of the CDAN1 protein (p.Ser555Gly). This variant is present in population databases (rs375920609, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CDAN1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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