ClinVar Miner

Submissions for variant NM_032856.5(WDR73):c.626G>A (p.Trp209Ter)

gnomAD frequency: 0.00001  dbSNP: rs1896432430
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001265694 SCV001443861 pathogenic Inborn genetic diseases 2020-02-03 criteria provided, single submitter clinical testing The alteration results in a premature stop codon: The c.626G>A (p.W209*) alteration, located in coding exon 7 of the WDR73 gene, results from a G to A substitution at nucleotide position 626. This changes the amino acid from a tryptophan (W) to a stop codon at amino acid position 209. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. The alteration is not observed in population databases: Based on data from the Genome Aggregation Database (gnomAD), the WDR73 c.626G>A alteration was not observed, with coverage at this position. Based on the available evidence, this alteration is classified as pathogenic.
Baylor Genetics RCV001332717 SCV001525110 likely pathogenic Galloway-Mowat syndrome 1 2019-07-30 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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