ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln)

gnomAD frequency: 0.00001  dbSNP: rs764512369
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001206243 SCV001377541 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1123 of the WDR19 protein (p.Arg1123Gln). This variant is present in population databases (rs764512369, 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: 937270). 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: "Deleterious"; 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276660 SCV002567169 uncertain significance Connective tissue disorder 2019-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480675 SCV002788836 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2022-05-26 criteria provided, single submitter clinical testing

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