ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.3383C>T (p.Pro1128Leu)

gnomAD frequency: 0.00004  dbSNP: rs752497862
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002012591 SCV002280204 uncertain significance not provided 2022-05-21 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1128 of the CDAN1 protein (p.Pro1128Leu). This variant is present in population databases (rs752497862, gnomAD 0.02%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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 RCV003492719 SCV004234975 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2023-04-07 criteria provided, single submitter clinical testing

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