ClinVar Miner

Submissions for variant NM_052844.4(DYNC2I2):c.544C>T (p.Arg182Trp)

gnomAD frequency: 0.00002  dbSNP: rs555811074
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002231195 SCV002508991 pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly 2024-12-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 182 of the WDR34 protein (p.Arg182Trp). This variant is present in population databases (rs555811074, gnomAD 0.006%). This missense change has been observed in individuals with short-rib thoracic dysplasia (PMID: 29068549, 29241935, 36653407; internal data). ClinVar contains an entry for this variant (Variation ID: 446625). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects WDR34 function (PMID: 36268591). For these reasons, this variant has been classified as Pathogenic.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003321641 SCV004026493 likely pathogenic not provided 2021-12-14 criteria provided, single submitter clinical testing PP3, PM1, PM2_SUP, PP1_MOD
Dan Cohn Lab, University Of California Los Angeles RCV000515869 SCV000612031 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000515869 SCV001479908 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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