Submissions for variant NM_001347721.2(DYRK1A):c.1286G>A (p.Arg429His)

dbSNP: rs1379071994

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001224657	SCV001396871	uncertain significance	DYRK1A-related intellectual disability syndrome	2019-05-08	criteria provided, single submitter	clinical testing	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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DYRK1A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with histidine at codon 438 of the DYRK1A protein (p.Arg438His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine.
CeGaT Center for Human Genetics Tuebingen	RCV001815518	SCV002064071	uncertain significance	not provided	2023-02-01	criteria provided, single submitter	clinical testing	DYRK1A: PM2, PP2, PS3:Supporting, PS4:Supporting, BP5