ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3112C>T (p.Arg1038Ter)

gnomAD frequency: 0.00002  dbSNP: rs748174246
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000779442 SCV000916062 uncertain significance WDR19-related disorder 2018-12-24 criteria provided, single submitter clinical testing This variant is a stop-gained variant, which was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018) and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score for this variant, it could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for this disease.
Molecular Biology Laboratory, Fundació Puigvert RCV001281117 SCV001425290 pathogenic Senior-Loken syndrome 8 2020-02-01 criteria provided, single submitter research
Invitae RCV001856174 SCV002241225 pathogenic Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-11-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 632440). This premature translational stop signal has been observed in individual(s) with WDR19-related conditions (PMID: 29801666). This variant is present in population databases (rs748174246, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Arg1038*) in the WDR19 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WDR19 are known to be pathogenic (PMID: 22019273, 23559409, 23683095, 26275793, 27241786, 29068549).

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