ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2455C>A (p.Gln819Lys)

gnomAD frequency: 0.00006  dbSNP: rs779337768
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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 RCV001976830 SCV002267104 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-02-06 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with WDR19-related conditions. This variant is present in population databases (rs779337768, gnomAD 0.004%). This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 819 of the WDR19 protein (p.Gln819Lys).
Fulgent Genetics, Fulgent Genetics RCV002479650 SCV002790867 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2022-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303556 SCV004003447 uncertain significance Inborn genetic diseases 2023-03-24 criteria provided, single submitter clinical testing The c.2455C>A (p.Q819K) alteration is located in exon 22 (coding exon 22) of the WDR19 gene. This alteration results from a C to A substitution at nucleotide position 2455, causing the glutamine (Q) at amino acid position 819 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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