ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1567G>A (p.Asp523Asn)

gnomAD frequency: 0.00001  dbSNP: rs557405566
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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 RCV001320838 SCV001511641 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2024-09-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 523 of the WDR19 protein (p.Asp523Asn). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1021136). 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.
GeneDx RCV004762079 SCV005372402 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 has a deleterious effect on protein structure/function
Ambry Genetics RCV005298781 SCV005958021 uncertain significance Inborn genetic diseases 2025-01-26 criteria provided, single submitter clinical testing The c.1567G>A (p.D523N) alteration is located in exon 15 (coding exon 15) of the WDR19 gene. This alteration results from a G to A substitution at nucleotide position 1567, causing the aspartic acid (D) at amino acid position 523 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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