ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.2861C>T (p.Pro954Leu)

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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 RCV003144730 SCV003829408 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2021-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003720771 SCV004518618 uncertain significance not provided 2023-08-08 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 disruptive. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 954 of the CDAN1 protein (p.Pro954Leu). This variant is present in population databases (rs773023944, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CDAN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2439830).

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