ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3280C>T (p.Arg1094Cys)

gnomAD frequency: 0.00005  dbSNP: rs757564170
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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 RCV002010536 SCV002290373 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2024-12-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1094 of the WDR19 protein (p.Arg1094Cys). This variant is present in population databases (rs757564170, gnomAD 0.01%). 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: 1499256). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on WDR19 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.
Fulgent Genetics, Fulgent Genetics RCV002479727 SCV002797108 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2024-06-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045951 SCV004979272 uncertain significance Inborn genetic diseases 2023-10-05 criteria provided, single submitter clinical testing The c.3280C>T (p.R1094C) alteration is located in exon 30 (coding exon 30) of the WDR19 gene. This alteration results from a C to T substitution at nucleotide position 3280, causing the arginine (R) at amino acid position 1094 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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