Submissions for variant NM_004714.3(DYRK1B):c.1640G>A (p.Arg547Gln)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
New York Genome Center	RCV003448559	SCV004176036	uncertain significance	Abdominal obesity-metabolic syndrome 3	2023-03-28	criteria provided, single submitter	clinical testing	The c.1640G>A variant in DYRK1B has not previously been reported in the literature or public variant repositories (ClinVar and LOVD). The c.1640G>A variant is observed in 29 alleles (0.0058% minor allele frequency with 0 homozygotes) in population databases (gnomAD v2.1.1 and v3.1.2, TOPMed Freeze 8). The c.1640G>A variant is located in exon 11 of this 11-exon gene and is predicted to replace a moderately conserved arginine amino acid with glutamine at position 547 in the encoded protein. In silico predictions for p.(Arg547Gln) are inconclusive of the variant's effect [(CADD v1.6 = 22.1, REVEL = 0.082)]; however, there are no functional studies to supportor refute these predictions. Based on available evidence this c.1640G>A p.(Arg547Gln) variant identified in DYRK1B is classified as a Variant ofUncertain Significance.
PreventionGenetics, part of Exact Sciences	RCV003919240	SCV004730390	uncertain significance	DYRK1B-related disorder	2024-01-23	no assertion criteria provided	clinical testing	The DYRK1B c.1640G>A variant is predicted to result in the amino acid substitution p.Arg547Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0094% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.