ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002726025 SCV003003962 uncertain significance not provided 2023-05-08 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1962287). 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). This variant is present in population databases (rs370515022, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CDAN1-related conditions.
Revvity Omics, Revvity RCV003492775 SCV004234974 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2023-04-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004756414 SCV005342186 uncertain significance CDAN1-related disorder 2024-08-23 no assertion criteria provided clinical testing The CDAN1 c.1715G>C variant is predicted to result in the amino acid substitution p.Arg572Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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