ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1477G>C (p.Asp493His)

gnomAD frequency: 0.00001  dbSNP: rs587777349
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV001281114 SCV001425287 likely pathogenic Nephronophthisis 13 2020-02-01 criteria provided, single submitter research
GeneDx RCV001753491 SCV001986103 uncertain significance not provided 2019-05-08 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Identified in the heterozygous state in a patient with nonsyndromic retinitis pigmentosa, however, this individual was also homozygous for another variant in WDR19 (Coussa et al., 2013); This variant is associated with the following publications: (PMID: 23559409, 23683095, 31589614)
Invitae RCV001854543 SCV002131144 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 493 of the WDR19 protein (p.Asp493His). This variant is present in population databases (rs587777349, gnomAD 0.0009%). This missense change has been observed in individuals with WDR19-related conditions (PMID: 23559409, 33532864; Invitae). ClinVar contains an entry for this variant (Variation ID: 127155). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.
OMIM RCV000115011 SCV000148920 pathogenic Senior-Loken syndrome 8 2013-08-01 no assertion criteria provided literature only

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