ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.817A>G (p.Asn273Asp)

gnomAD frequency: 0.00004  dbSNP: rs375644378
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204687 SCV001375904 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 273 of the WDR19 protein (p.Asn273Asp). This variant is present in population databases (rs375644378, gnomAD 0.004%). This missense change has been observed in individuals with asphyxiating thoracic dystrophy (PMID: 29068549). ClinVar contains an entry for this variant (Variation ID: 446633). 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 aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002476032 SCV002791579 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2021-11-30 criteria provided, single submitter clinical testing
Dan Cohn Lab, University Of California Los Angeles RCV000515807 SCV000612045 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000515807 SCV001479441 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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