ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.817A>G (p.Asn273Asp) (rs375644378)

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Total submissions: 3
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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 2020-07-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 273 of the WDR19 protein (p.Asn273Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is present in population databases (rs375644378, ExAC 0.004%). This variant has been observed in individuals affected 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, 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. 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.
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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