ClinVar Miner

Submissions for variant NM_032856.5(WDR73):c.518-10G>A

gnomAD frequency: 0.00003  dbSNP: rs769933431
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492885 SCV000581996 likely pathogenic not provided 2024-05-15 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002481563 SCV002775955 uncertain significance Galloway-Mowat syndrome 1 2022-05-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000492885 SCV002934466 uncertain significance not provided 2023-10-13 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the WDR73 gene. It does not directly change the encoded amino acid sequence of the WDR73 protein. This variant is present in population databases (rs769933431, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with WDR73-related conditions. ClinVar contains an entry for this variant (Variation ID: 429429). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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