ClinVar Miner

Submissions for variant NM_004714.3(DYRK1B):c.1285G>C (p.Gly429Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002468531 SCV002764534 uncertain significance Abdominal obesity-metabolic syndrome 3 2020-12-17 criteria provided, single submitter clinical testing The heterozygous c.1285G>C (p.Gly429Arg) variant identified in DYRK1B has not been reported in affected individuals in the literature. The variant has 0.000046 allele frequency in the gnomAD(v3) database (7 out of 152,182 heterozygous alleles, no homozygotes) suggesting that it is not a common benign variant in the populations represented in this database. The variant is located within the protein kinase domain (amino acids 111-431, UniProtKB -Q9Y463). The affected residue is not well conserved. In silico tools provide conflicting interpretations about potential pathogenicity of this variant. Based on the available evidence, the p.Gly429Arg variant identified in the DYRK1B gene is reported as a variant of uncertain significance.
Ambry Genetics RCV004067569 SCV004858704 uncertain significance Inborn genetic diseases 2023-11-02 criteria provided, single submitter clinical testing The c.1285G>C (p.G429R) alteration is located in exon 9 (coding exon 8) of the DYRK1B gene. This alteration results from a G to C substitution at nucleotide position 1285, causing the glycine (G) at amino acid position 429 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003903708 SCV004721946 uncertain significance DYRK1B-related disorder 2024-08-27 no assertion criteria provided clinical testing The DYRK1B c.1285G>C variant is predicted to result in the amino acid substitution p.Gly429Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0059% of alleles in individuals of African 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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