Submissions for variant NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del)

dbSNP: rs1438501767

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000662001	SCV000784333	uncertain significance	Central core myopathy	2018-03-05	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000662002	SCV000784334	uncertain significance	Congenital multicore myopathy with external ophthalmoplegia	2018-03-05	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000662003	SCV000784335	uncertain significance	Malignant hyperthermia, susceptibility to, 1	2018-03-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000721581	SCV000852673	uncertain significance	not provided	2013-10-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001241734	SCV001414774	uncertain significance	RYR1-related disorder	2022-02-24	criteria provided, single submitter	clinical testing	This variant, c.5140_5142del, results in the deletion of 1 amino acid(s) of the RYR1 protein (p.Leu1714del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has been observed in individual(s) with clinical features of autosomal recessive RYR1-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 548508). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx	RCV000721581	SCV005332802	likely pathogenic	not provided	2023-03-08	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; In-frame deletion of 1 amino acids in a non-repeat region; This variant is associated with the following publications: (PMID: 32236737)