ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1486G>A (p.Val496Ile)

gnomAD frequency: 0.00002  dbSNP: rs1482640692
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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 RCV001967114 SCV002203657 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2020-12-17 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with WDR19-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with isoleucine at codon 496 of the WDR19 protein (p.Val496Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine.
Fulgent Genetics, Fulgent Genetics RCV002491965 SCV002792451 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2022-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002560616 SCV003566604 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.1486G>A (p.V496I) 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 1486, causing the valine (V) at amino acid position 496 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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