ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg) (rs1215108056)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001316218 SCV001506825 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2020-08-14 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 495 of the WDR19 protein (p.Gly495Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with WDR19-related conditions (PMID: 24504730, 29068549). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 446641). 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: Possibly Damaging; Align-GVGD: Class C1). This variant disrupts the p.Gly495Arg amino acid residue in WDR19. Other variant(s) that disrupt this residue have been observed in individuals with WDR19-related conditions (PMID: 25726036), which suggests that this may be a clinically significant amino acid residue. 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 RCV000516069 SCV000612053 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000516069 SCV001479440 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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