ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3464A>C (p.His1155Pro)

gnomAD frequency: 0.00001  dbSNP: rs774806370
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001372063 SCV001568651 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2020-08-20 criteria provided, single submitter clinical testing This variant is present in population databases (rs774806370, ExAC 0.001%). This sequence change replaces histidine with proline at codon 1155 of the WDR19 protein (p.His1155Pro). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and proline. This variant has not been reported in the literature in individuals with WDR19-related conditions. 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 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.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001724304 SCV001950431 uncertain significance Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.His1155Pro variant in WDR19 was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PM2, PP3. Based on this evidence we have classified this variant as a Variant of Uncertain Significance. If you have any questions about the classification please reach out to the Pierce Lab.

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