ClinVar Miner

Submissions for variant NM_032856.5(WDR73):c.68T>A (p.Leu23Gln)

dbSNP: rs797044993
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414279 SCV000491522 likely pathogenic not provided 2016-06-22 criteria provided, single submitter clinical testing The L23Q variant in the WDR73 gene has been reported previously in the homozygous state in an individual with a clinical diagnosis of Galloway-Mowat syndrome (Vodopiutz et al., 2015). The L23Q variant was not observed in approximately 6200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The L23Q variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. The L23Q variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
OMIM RCV000190491 SCV000245363 pathogenic Galloway-Mowat syndrome 1 2015-06-29 no assertion criteria provided literature only

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