ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2741C>A (p.Ala914Asp)

dbSNP: rs766616967
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV001281116 SCV001425289 likely pathogenic Senior-Loken syndrome 8 2020-02-01 criteria provided, single submitter research
Fundación para la Investigación Sanitaria y Biomédica de la Comunidad Valenciana, FISABIO Oftalmología Médica RCV001290088 SCV001425295 pathogenic Saldino-Mainzer syndrome 2018-02-19 no assertion criteria provided clinical testing The variante c.2741C>A p.(Ala914Asp) located in exon 25 of WDR19 gene is a missense variant which predicas the change from the aminoacid Alanine (Ala194) to Aspartic acid of WDR19 protein. Ala914 aminoacid is preserve in the WDR19 ortholog proteins from other species as M Mulata, M. Musculus, D. Rerio, Drosophila o C. Elegans. This sequence variant has not been previously described in literature and is not present in the largest genome mutation database, The Human Mutation Database. This variant is not found in oblational databases as Exome Aggregation Consortium (ExAC) but it appears at Genome Aggregation Database (gnomAD) with a very low frequency (MAF=1/120578= 8.293e-06). Some algorithms for sequence variants pathogenicity prediction estimate that it is a pathogenic variant (Polyphen, SIFT, Mutation Taster, Mutation Assessor, FATHMM, MetaSVM, MetaLR).
OMIM RCV002251761 SCV002520493 pathogenic Asphyxiating thoracic dystrophy 5 2022-05-02 no assertion criteria provided literature only

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