ClinVar Miner

Submissions for variant NM_032856.5(WDR73):c.346G>A (p.Asp116Asn)

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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 RCV003005449 SCV003303116 uncertain significance not provided 2022-11-28 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. 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) has been performed at Invitae 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 WDR73 protein function. This variant has not been reported in the literature in individuals affected with WDR73-related conditions. This variant is present in population databases (rs554834821, gnomAD 0.05%), including at least one homozygous and/or hemizygous individual. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 116 of the WDR73 protein (p.Asp116Asn).
Revvity Omics, Revvity RCV003138437 SCV003823737 uncertain significance Galloway-Mowat syndrome 1 2020-12-05 criteria provided, single submitter clinical testing

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