ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2646-16G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002624526 SCV003516841 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2021-11-20 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. This variant has not been reported in the literature in individuals affected with WDR19-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change falls in intron 23 of the WDR19 gene. It does not directly change the encoded amino acid sequence of the WDR19 protein.

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