ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3565C>T (p.His1189Tyr)

gnomAD frequency: 0.00001  dbSNP: rs778261943
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000512921 SCV000609139 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001865682 SCV002197731 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-07-19 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. ClinVar contains an entry for this variant (Variation ID: 444633). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. This variant is present in population databases (rs778261943, gnomAD 0.007%). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 1189 of the WDR19 protein (p.His1189Tyr).
Fulgent Genetics, Fulgent Genetics RCV005034054 SCV005665266 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2024-01-20 criteria provided, single submitter clinical testing

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