Submissions for variant NM_018718.3(CEP41):c.5C>T (p.Ser2Phe)

gnomAD frequency: 0.00010  dbSNP: rs782137799

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001060291	SCV001224969	uncertain significance	Joubert syndrome 15	2024-01-09	criteria provided, single submitter	clinical testing	This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 2 of the CEP41 protein (p.Ser2Phe). This variant is present in population databases (rs782137799, gnomAD 0.1%), including at least one homozygous and/or hemizygous individual. This missense change has been observed in individual(s) with clinical features of Bardet-Biedl syndrome (PMID: 29588463). ClinVar contains an entry for this variant (Variation ID: 855107). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573282	SCV001798911	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001573282	SCV001806941	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	RCV001573282	SCV004174961	uncertain significance	not provided	2021-09-01	no assertion criteria provided	clinical testing