ClinVar Miner

Submissions for variant NM_004714.3(DYRK1B):c.304C>T (p.Arg102Cys)

gnomAD frequency: 0.00001  dbSNP: rs367643250
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002515804 SCV003443243 pathogenic not provided 2022-03-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects DYRK1B function (PMID: 24827035). 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 not expected to disrupt DYRK1B protein function. ClinVar contains an entry for this variant (Variation ID: 132792). This missense change has been observed in individual(s) with clinical features of abdominal obesity-metabolic syndrome 3 (PMID: 24827035). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs367643250, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 102 of the DYRK1B protein (p.Arg102Cys).
OMIM RCV000119261 SCV000154696 pathogenic Abdominal obesity-metabolic syndrome 3 2014-05-15 no assertion criteria provided literature only

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