ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1168C>A (p.Pro390Thr)

gnomAD frequency: 0.00003  dbSNP: rs752803760
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001928037 SCV002180722 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 390 of the WDR19 protein (p.Pro390Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. This variant is present in population databases (rs752803760, ExAC 0.02%). This variant has not been reported in the literature in individuals with WDR19-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Fulgent Genetics, Fulgent Genetics RCV002507029 SCV002814793 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2022-04-06 criteria provided, single submitter clinical testing

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