Submissions for variant NM_000540.3(RYR1):c.8196del (p.Gly2733fs)

dbSNP: rs1600844997

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001009005	SCV001168814	likely pathogenic	not provided	2018-08-30	criteria provided, single submitter	clinical testing	The c.8196delA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.8196delA variant causes a frameshift starting with codon Glycine 2733, changes this amino acid to a Alanine residue, and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Gly2733AlafsX13. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the c.8196delA variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Fulgent Genetics, Fulgent Genetics	RCV002481817	SCV002802206	likely pathogenic	Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome	2021-10-16	criteria provided, single submitter	clinical testing
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	RCV004556824	SCV005045780	likely pathogenic	Congenital multicore myopathy with external ophthalmoplegia	2021-07-16	criteria provided, single submitter	clinical testing