ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.373A>C (p.Asn125His)

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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 RCV002637448 SCV003513928 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2024-10-23 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 125 of the WDR19 protein (p.Asn125His). This variant is present in population databases (rs568869081, gnomAD 0.02%). 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: 2195039). 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) 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, Fulgent Genetics RCV005028292 SCV005662178 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2024-05-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004736283 SCV005365113 uncertain significance WDR19-related disorder 2024-03-18 no assertion criteria provided clinical testing The WDR19 c.373A>C variant is predicted to result in the amino acid substitution p.Asn125His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.017% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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