Submissions for variant NM_015311.3(OBSL1):c.4453C>T (p.Arg1485Ter)

gnomAD frequency: 0.00001  dbSNP: rs568750433

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002012250	SCV002227919	uncertain significance	not provided	2022-02-28	criteria provided, single submitter	clinical testing	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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with OBSL1-related conditions. This variant is present in population databases (rs568750433, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg1485*) in the OBSL1 gene. However, it is currently unclear if variants that occur in this region of the gene cause disease.
CeGaT Center for Human Genetics Tuebingen	RCV002012250	SCV004151473	uncertain significance	not provided	2023-10-01	criteria provided, single submitter	clinical testing	OBSL1: PM2, PVS1:Moderate
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV003989136	SCV004805858	likely pathogenic	3M syndrome 2	2024-03-29	criteria provided, single submitter	clinical testing