ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.3188C>T (p.Thr1063Met)

gnomAD frequency: 0.00048  dbSNP: rs143857276
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001116492 SCV001274584 uncertain significance Congenital dyserythropoietic anemia, type I 2017-06-19 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Mayo Clinic Laboratories, Mayo Clinic RCV002261279 SCV002541249 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing BP4
Invitae RCV002261279 SCV003266817 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1063 of the CDAN1 protein (p.Thr1063Met). This variant is present in population databases (rs143857276, gnomAD 0.07%). 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: 885088). 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 methionine 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.
Revvity Omics, Revvity RCV003492222 SCV004234988 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2023-11-03 criteria provided, single submitter clinical testing

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