Submissions for variant NM_001384732.1(CPLANE1):c.2563C>T (p.Gln855Ter)

gnomAD frequency: 0.00001  dbSNP: rs1285358729

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
DASA	RCV001813901	SCV002061190	likely pathogenic	Joubert syndrome 17	2022-01-05	criteria provided, single submitter	clinical testing	The variant creates a premature translational stop signal c.2563C>T;p.(Gln855*) in CPLANE1 gene. It is expected to result in an absent or disrupted protein product - PVS1.This variant is not present in population databases (rs1285358729, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2_supporting. In summary, the currently available evidence indicates that the variant is likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002541495	SCV003269125	pathogenic	not provided	2021-12-30	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln855*) 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). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CPLANE1-related conditions. For these reasons, this variant has been classified as Pathogenic.