ClinVar Miner

Submissions for variant NM_032856.5(WDR73):c.710dup (p.Gly238fs)

dbSNP: rs1282630153
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989368 SCV001139665 likely pathogenic Galloway-Mowat syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549726 SCV003004670 pathogenic not provided 2024-10-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly238Trpfs*17) in the WDR73 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WDR73 are known to be pathogenic (PMID: 25466283, 25873735, 26123727). This variant is not present in population databases (gnomAD no frequency). 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: 803115). For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000989368 SCV003807044 likely pathogenic Galloway-Mowat syndrome 1 2022-09-15 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated

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