Submissions for variant NM_025009.5(CEP135):c.874C>T (p.Arg292Ter)

gnomAD frequency: 0.00006  dbSNP: rs752140135

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
New York Genome Center	RCV000599697	SCV002098018	likely pathogenic	Microcephaly 8, primary, autosomal recessive	2020-06-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001703213	SCV003789590	pathogenic	not provided	2022-09-22	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg292*) in the CEP135 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP135 are known to be pathogenic (PMID: 22521416, 26657937). This variant is present in population databases (rs752140135, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with CEP135-related conditions. ClinVar contains an entry for this variant (Variation ID: 518356). For these reasons, this variant has been classified as Pathogenic.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000599697	SCV000734336	pathogenic	Microcephaly 8, primary, autosomal recessive		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001703213	SCV001930522	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001703213	SCV001955750	likely pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001703213	SCV001969938	likely pathogenic	not provided		no assertion criteria provided	clinical testing