ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.3556G>A (p.Gly1186Arg)

gnomAD frequency: 0.00033  dbSNP: rs371901013
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335397 SCV001528535 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2018-09-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546730 SCV003451038 uncertain significance not provided 2022-04-28 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1186 of the CDAN1 protein (p.Gly1186Arg). This variant is present in population databases (rs371901013, gnomAD 0.1%). 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: 1033086). 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 arginine 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 RCV002546731 SCV003695016 uncertain significance Inborn genetic diseases 2024-07-31 criteria provided, single submitter clinical testing The c.3556G>A (p.G1186R) alteration is located in exon 27 (coding exon 27) of the CDAN1 gene. This alteration results from a G to A substitution at nucleotide position 3556, causing the glycine (G) at amino acid position 1186 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001335397 SCV003800457 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2022-04-07 criteria provided, single submitter clinical testing

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