Submissions for variant NM_177402.5(SYT2):c.797_801+1del

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002710285	SCV002997857	uncertain significance	not provided	2022-06-12	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 disrupt the consensus splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is also known as c.797_801+1del (Splice site). This variant has not been reported in the literature in individuals affected with SYT2-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.796_801del, results in the deletion of 2 amino acid(s) of the SYT2 protein (p.Glu266_Glu267del), but otherwise preserves the integrity of the reading frame.
Revvity Omics, Revvity	RCV002710285	SCV003813505	likely pathogenic	not provided	2023-01-30	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV003989782	SCV004806394	pathogenic	Congenital myasthenic syndrome 7		criteria provided, single submitter	clinical testing