ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.389G>A (p.Arg130Gln)

gnomAD frequency: 0.00001  dbSNP: rs747065633
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762096 SCV000892354 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477749 SCV002780929 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2024-05-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151145 SCV003839223 uncertain significance not specified 2022-08-29 no assertion criteria provided clinical testing DNA sequence analysis of the WDR19 gene demonstrated a sequence change, c.389G>A, in exon 5 that results in an amino acid change, p.Arg130Gln. This sequence change has been described in the gnomAD database in five individuals which corresponds to an overall population frequency of 0.0018% (dbSNP rs747065633). The p.Arg130Gln change affects a moderately conserved amino acid residue located in a domain of the WDR19 protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Arg130Gln substitution. This sequence change does not appear to have been previously described in individuals with WDR19-related disorders. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Arg130Gln change remains unknown at this time.
PreventionGenetics, part of Exact Sciences RCV004735794 SCV005360969 uncertain significance WDR19-related disorder 2024-07-15 no assertion criteria provided clinical testing The WDR19 c.389G>A variant is predicted to result in the amino acid substitution p.Arg130Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0042% of alleles in individuals of African 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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