Submissions for variant NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter)

gnomAD frequency: 0.00002  dbSNP: rs147416429

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
UW Hindbrain Malformation Research Program, University of Washington	RCV000201628	SCV000256298	pathogenic	Joubert syndrome 17	2015-02-23	criteria provided, single submitter	research
Baylor Genetics	RCV001332490	SCV001524830	pathogenic	Orofaciodigital syndrome type 6	2019-11-18	criteria provided, single submitter	clinical testing	This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp	RCV002517309	SCV003525782	pathogenic	not provided	2023-09-27	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 217566). This variant is also known as C5ORF42 p.R2660X. This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 22693042, 26092869, 33176815). This variant is present in population databases (rs147416429, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg2660*) in the CPLANE1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CPLANE1 are known to be pathogenic (PMID: 24178751, 26092869).
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University	RCV000201628	SCV003803082	uncertain significance	Joubert syndrome 17		no assertion criteria provided	clinical testing
Dr.Nikuei Genetic Center	RCV000201628	SCV005061421	pathogenic	Joubert syndrome 17		no assertion criteria provided	clinical testing