ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2779G>A (p.Val927Ile)

gnomAD frequency: 0.00001  dbSNP: rs757105603
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002032092 SCV002309846 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-08-08 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 927 of the WDR19 protein (p.Val927Ile). This variant is present in population databases (rs757105603, gnomAD 0.006%). 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: 1524948). 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 tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002486793 SCV002775197 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2022-04-05 criteria provided, single submitter clinical testing

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