ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3066A>G (p.Arg1022=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002959182 SCV003283937 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-06-14 criteria provided, single submitter clinical testing This sequence change affects codon 1022 of the WDR19 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the WDR19 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with WDR19-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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