ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.7988_7989del (p.Gly2663fs) (rs730882217)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201763 SCV000256305 pathogenic Joubert syndrome 17 2015-02-23 criteria provided, single submitter research
GeneDx RCV000375310 SCV000330507 pathogenic not provided 2016-05-06 criteria provided, single submitter clinical testing The c.7988_7989delGA pathogenic variant in the C5orf42 gene has been reported previously in association with autosomal recessive Joubert syndrome and related disorders (JSRD) when present in the homozygous state (Alazami et al., 2012; Bachmann-Gagescu et al., 2015). The c.7988_7989delGA variant causes a frameshift starting with codon Glycine 2663, changes this amino acid to an Alanine residue, and creates a premature Stop codon at position 40 of the new reading frame, denoted p.Gly2663AlafsX40. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.7988_7989delGA variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.7988_7989delGA as a pathogenic variant.
Genetic Services Laboratory,University of Chicago RCV000201763 SCV000593806 pathogenic Joubert syndrome 17 2015-08-17 criteria provided, single submitter clinical testing
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000162127 SCV000196412 likely pathogenic Global developmental delay; Typical Joubert syndrome MRI findings 2014-12-01 no assertion criteria provided research
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000201763 SCV001132834 pathogenic Joubert syndrome 17 2019-01-29 no assertion criteria provided clinical testing

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