Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001226106 | SCV001398404 | uncertain significance | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2023-12-04 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 373 of the WDR19 protein (p.Ala373Gly). This variant is present in population databases (rs371744495, gnomAD 0.004%). 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: 953767). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt WDR19 protein function with a negative predictive value of 80%. 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, |
RCV002497769 | SCV002805567 | uncertain significance | Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 | 2021-09-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002562608 | SCV003723765 | uncertain significance | Inborn genetic diseases | 2022-05-18 | criteria provided, single submitter | clinical testing | The c.1118C>G (p.A373G) alteration is located in exon 11 (coding exon 11) of the WDR19 gene. This alteration results from a C to G substitution at nucleotide position 1118, causing the alanine (A) at amino acid position 373 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV004762004 | SCV005372401 | uncertain significance | not provided | 2023-06-12 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function, but may impact gene splicing; in the absence of RNA/functional studies, the actual effect of this sequence change is unknown |