ClinVar Miner

Submissions for variant NM_052844.4(DYNC2I2):c.1480C>T (p.Gln494Ter)

gnomAD frequency: 0.00001  dbSNP: rs751323441
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001770390 SCV001993778 uncertain significance not provided 2024-11-27 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, as the last 43 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; This variant is associated with the following publications: (PMID: 29068549)
Labcorp Genetics (formerly Invitae), Labcorp RCV002231194 SCV002509017 pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly 2024-09-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln494*) in the WDR34 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 43 amino acid(s) of the WDR34 protein. This variant is present in population databases (rs751323441, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with asphyxiating thoracic dystrophy (PMID: 29068549). ClinVar contains an entry for this variant (Variation ID: 446621). This variant disrupts a region of the WDR34 protein in which other variant(s) (p.Thr514Argfs*11) have been determined to be pathogenic (PMID: 24183451). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Dan Cohn Lab, University Of California Los Angeles RCV000515944 SCV000612026 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000515944 SCV001479903 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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