ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2362G>A (p.Ala788Thr)

gnomAD frequency: 0.00004  dbSNP: rs768082694
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060443 SCV001225130 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-07-21 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 788 of the WDR19 protein (p.Ala788Thr). This variant is present in population databases (rs768082694, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. ClinVar contains an entry for this variant (Variation ID: 855226). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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