Submissions for variant NM_000540.3(RYR1):c.6016-5C>G

gnomAD frequency: 0.00001  dbSNP: rs369996114

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000498770	SCV000590561	uncertain significance	not provided	2017-06-28	criteria provided, single submitter	clinical testing	A variant of uncertain significance has been identified in the RYR1 gene. The c.6016-5 C>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.6016-5 C>G variant is observed in 2/65980 (0.003%) alleles from individuals of European background, in the ExAC dataset (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Several in-silico splice prediction models predict that c.6016-5 C>G may damage the natural acceptor site of intron 36 and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
CeGaT Center for Human Genetics Tuebingen	RCV000498770	SCV001747920	likely benign	not provided	2021-04-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002527155	SCV003504791	likely benign	RYR1-related disorder	2022-12-10	criteria provided, single submitter	clinical testing