ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.1715G>C (p.Arg572Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002726025 SCV003003962 uncertain significance not provided 2023-05-08 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1962287). This variant has not been reported in the literature in individuals affected with CDAN1-related conditions. This variant is present in population databases (rs370515022, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 572 of the CDAN1 protein (p.Arg572Thr).
Revvity Omics, Revvity RCV003492775 SCV004234974 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2023-04-07 criteria provided, single submitter clinical testing

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