ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3367C>T (p.Arg1123Trp)

gnomAD frequency: 0.00001  dbSNP: rs369310189
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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 RCV001978789 SCV002221359 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1123 of the WDR19 protein (p.Arg1123Trp). This variant is present in population databases (rs369310189, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. 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 disruptive. 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.
Ambry Genetics RCV003339846 SCV004059999 uncertain significance Inborn genetic diseases 2023-07-19 criteria provided, single submitter clinical testing The c.3367C>T (p.R1123W) alteration is located in exon 31 (coding exon 31) of the WDR19 gene. This alteration results from a C to T substitution at nucleotide position 3367, causing the arginine (R) at amino acid position 1123 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005031951 SCV005665254 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2024-01-22 criteria provided, single submitter clinical testing

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