ClinVar Miner

Submissions for variant NM_014749.5(KIAA0586):c.94dup (p.His32fs) (rs555421894)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513804 SCV000609943 likely pathogenic not provided 2017-03-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000513804 SCV000702601 likely pathogenic not provided 2016-11-22 criteria provided, single submitter clinical testing
Invitae RCV000705869 SCV000834886 pathogenic Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2017-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His44Profs*8) in the KIAA0586 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs555421894, ExAC 0.04%). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with features of both Joubert syndrome and Jeune asphyxiating thoracic dystrophy (PMID: 26386044). It has also been observed in an individual affected with Joubert syndrome, however a second variant was not identified in this individual (PMID: 26096313). Loss-of-function variants in KIAA0586 are known to be pathogenic (PMID: 26096313, 26166481). For these reasons, this variant has been classified as Pathogenic.

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