ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3247G>A (p.Asp1083Asn)

gnomAD frequency: 0.00004  dbSNP: rs376167184
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001361624 SCV001557603 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-10-24 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 1083 of the WDR19 protein (p.Asp1083Asn). This variant is present in population databases (rs376167184, gnomAD 0.05%). 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: 1053298). 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. 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 RCV003246939 SCV003937782 uncertain significance Inborn genetic diseases 2023-05-25 criteria provided, single submitter clinical testing The c.3247G>A (p.D1083N) alteration is located in exon 29 (coding exon 29) of the WDR19 gene. This alteration results from a G to A substitution at nucleotide position 3247, causing the aspartic acid (D) at amino acid position 1083 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003319467 SCV004023596 uncertain significance not provided 2023-01-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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