ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1327C>A (p.Leu443Ile)

dbSNP: rs1368404511
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001891170 SCV002164634 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2021-11-01 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 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"). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 443 of the WDR19 protein (p.Leu443Ile).

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