ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2785C>T (p.Arg929Cys)

gnomAD frequency: 0.00002  dbSNP: rs1470166429
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001897257 SCV002149770 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-02-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 929 of the WDR19 protein (p.Arg929Cys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with retinal dystrophy (PMID: 32037395). 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 disruptive. 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 RCV005038430 SCV005665235 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2024-01-23 criteria provided, single submitter clinical testing

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