Submissions for variant NM_001036.6(RYR3):c.11164+1G>A

dbSNP: rs549279246

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000809355	SCV000949505	uncertain significance	Epileptic encephalopathy	2019-04-23	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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RYR3 cause disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with RYR3-related disease. This variant is present in population databases (rs549279246, ExAC 0.009%). This sequence change affects a donor splice site in intron 83 of the RYR3 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	RCV001007854	SCV001167552	uncertain significance	Flexion contracture		no assertion criteria provided	research
OMIM	RCV003166284	SCV003853597	pathogenic	Congenital myopathy 20	2023-04-07	no assertion criteria provided	literature only