ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.14T>C (p.Phe5Ser)

gnomAD frequency: 0.00001  dbSNP: rs1237494778
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074270 SCV001239843 pathogenic Retinal dystrophy 2019-05-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001212612 SCV001384201 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2023-08-10 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on WDR19 protein function. ClinVar contains an entry for this variant (Variation ID: 562401). This missense change has been observed in individual(s) with clinical features of retinal disorders, congenital or cystic renal disease, and/or nephronophthisis-related ciliopathy (PMID: 26489029, 30586318; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 5 of the WDR19 protein (p.Phe5Ser).
Fulgent Genetics, Fulgent Genetics RCV005027838 SCV005662159 likely pathogenic Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2024-01-29 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000681867 SCV000809346 likely pathogenic not provided 2018-09-16 no assertion criteria provided research
Genomics And Bioinformatics Analysis Resource, Columbia University RCV003319401 SCV004024136 likely pathogenic Senior-Loken syndrome 8 no assertion criteria provided research

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