ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1430G>A (p.Arg477His)

gnomAD frequency: 0.00003  dbSNP: rs371117988
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082250 SCV000114199 uncertain significance not provided 2013-10-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001317865 SCV001508543 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 477 of the WDR19 protein (p.Arg477His). This variant is present in population databases (rs371117988, 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: 96173). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002490724 SCV002782289 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2022-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004019576 SCV004979260 uncertain significance Inborn genetic diseases 2023-12-20 criteria provided, single submitter clinical testing The c.1430G>A (p.R477H) alteration is located in exon 14 (coding exon 14) of the WDR19 gene. This alteration results from a G to A substitution at nucleotide position 1430, causing the arginine (R) at amino acid position 477 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004734640 SCV005344274 uncertain significance WDR19-related disorder 2024-04-19 no assertion criteria provided clinical testing The WDR19 c.1430G>A variant is predicted to result in the amino acid substitution p.Arg477His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% of alleles in individuals of South 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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