ClinVar Miner

Submissions for variant NM_139281.3(WDR36):c.1418G>A (p.Arg473Gln)

gnomAD frequency: 0.00091  dbSNP: rs116529882
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247234 SCV002516170 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002512657 SCV003252583 uncertain significance not provided 2024-12-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 529 of the WDR36 protein (p.Arg529Gln). This variant is present in population databases (rs116529882, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with clinical features of WDR36-related conditions (PMID: 15677485, 16723468, 17563723). ClinVar contains an entry for this variant (Variation ID: 1583). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on WDR36 protein function. 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.
OMIM RCV000001650 SCV000021806 pathogenic Glaucoma 1, open angle, G 2005-03-15 no assertion criteria provided literature only

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