ClinVar Miner

Submissions for variant NM_032856.5(WDR73):c.602G>A (p.Gly201Glu)

dbSNP: rs2141836997
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002052212 SCV002318778 uncertain significance Galloway-Mowat syndrome 1 2022-03-22 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported to be associated with WDR73 related disorder (PMID:27001912). The variant was co-segregated with Galloway-Mowat syndrome 1 in multiple affected family members (PMID: 27001912). It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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