ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1015G>A (p.Gly339Arg)

dbSNP: rs2053152079
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV001420327 SCV001622747 likely pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing PM1_moderate;PM2_supporting;PM5_moderate;PM6_moderate;PP2_supporting;PP3_supporting
Mendelics RCV002246382 SCV002519591 pathogenic DYRK1A-related intellectual disability syndrome 2022-05-04 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV004798912 SCV005420649 likely pathogenic Intellectual disability 2024-10-04 criteria provided, single submitter research PM6,PM2,PP3,PM5
Labcorp Genetics (formerly Invitae), Labcorp RCV002246382 SCV005831993 uncertain significance DYRK1A-related intellectual disability syndrome 2024-04-17 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 348 of the DYRK1A protein (p.Gly348Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of DYRK1A-related conditions (PMID: 31164858, 34374989; Invitae). ClinVar contains an entry for this variant (Variation ID: 1098405). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DYRK1A protein function with a positive predictive value of 80%. 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.

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