ClinVar Miner

Submissions for variant NM_032856.5(WDR73):c.354T>G (p.Asp118Glu)

gnomAD frequency: 0.00016  dbSNP: rs201827208
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001556612 SCV001778225 uncertain significance not provided 2024-09-23 criteria provided, single submitter clinical testing Reported in the apparently homozygous state in a patient with speech delay from a cohort of individuals who underwent clinical exome sequencing; further specific clinical details were not provided in this report (PMID: 31130284); In silico analysis indicates that this missense variant does not alter protein structure/function; In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 31130284)
Fulgent Genetics, Fulgent Genetics RCV002495888 SCV002792928 uncertain significance Galloway-Mowat syndrome 1 2024-04-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001556612 SCV003277093 uncertain significance not provided 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 118 of the WDR73 protein (p.Asp118Glu). This variant is present in population databases (rs201827208, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of WDR73-related conditions (PMID: 31130284). ClinVar contains an entry for this variant (Variation ID: 1194019). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Revvity Omics, Revvity RCV002495888 SCV003823734 uncertain significance Galloway-Mowat syndrome 1 2022-06-29 criteria provided, single submitter clinical testing
3billion, Medical Genetics RCV002495888 SCV005328602 likely benign Galloway-Mowat syndrome 1 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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