ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3160G>A (p.Ala1054Thr)

gnomAD frequency: 0.00006  dbSNP: rs756862143
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001361709 SCV001557693 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-03-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1053374). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. This variant is present in population databases (rs756862143, gnomAD 0.05%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1054 of the WDR19 protein (p.Ala1054Thr). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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