ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.200A>G (p.Asp67Gly)

gnomAD frequency: 0.00002  dbSNP: rs778896318
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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 RCV001942780 SCV002130348 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-08-20 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 create or strengthen a 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: 1365785). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. This variant is present in population databases (rs778896318, gnomAD 0.005%). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 67 of the WDR19 protein (p.Asp67Gly).
Fulgent Genetics, Fulgent Genetics RCV005023324 SCV005662171 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2024-06-08 criteria provided, single submitter clinical testing

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