Total submissions: 2
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]. |