ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.3299C>T (p.Pro1100Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002949198 SCV003276905 uncertain significance not provided 2022-10-24 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 1100 of the CDAN1 protein (p.Pro1100Leu). This variant is present in population databases (rs375521934, 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine 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.
Ambry Genetics RCV003170712 SCV003865898 uncertain significance Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.3299C>T (p.P1100L) alteration is located in exon 26 (coding exon 26) of the CDAN1 gene. This alteration results from a C to T substitution at nucleotide position 3299, causing the proline (P) at amino acid position 1100 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003764087 SCV004564303 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2022-12-30 criteria provided, single submitter clinical testing

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