Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000203026 | SCV000257710 | uncertain significance | Malignant hypothermia | 2015-04-17 | criteria provided, single submitter | clinical testing | |
Biesecker Lab/Clinical Genomics Section, |
RCV000210002 | SCV000265756 | uncertain significance | Malignant hyperthermia, susceptibility to, 1 | 2013-07-01 | criteria provided, single submitter | research | |
Gene |
RCV000767095 | SCV000617889 | uncertain significance | not provided | 2023-05-09 | criteria provided, single submitter | clinical testing | Identified as a heterozygous variant in a cohort of African American men with muscle cramps and pain with exertion (Vedanarayanan and Sinclair, 2013); In silico analysis supports a deleterious effect on protein structure/function |
Labcorp Genetics |
RCV001081428 | SCV000659759 | benign | RYR1-related disorder | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV001081428 | SCV000852232 | uncertain significance | RYR1-related disorder | 2024-01-29 | criteria provided, single submitter | clinical testing | The RYR1 c.11061_11063delGGA variant is predicted to result in an in-frame deletion (p.Glu3689del). This variant has been reported in two individuals with no history of malignant hyperthermia, heat illness, or myopathy (Table S3 - Gonsalves et al. 2013. PubMed ID: 24195946). This variant was also reported in an individual with hypertrophied muscles and persistently elevated serum creatine kinase (Vedanarayanan. American Academy of Neurology 2013 Annual Meeting; https://www.aan.com/MSA/Public/Events/Details/2786). This variant is reported in 1.8% of alleles in individuals of Ashkenazi Jewish descent in gnomAD; however, quality metrics at this site indicate this may not be a reliable estimate of the population frequency. At PreventionGenetics, we have observed this variant in the heterozygous state in ~90 individuals indicating it is likely too common to be a primary cause of an autosomal dominant disorder. Although we suspect this variant is benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Color Diagnostics, |
RCV000210002 | SCV004358192 | likely benign | Malignant hyperthermia, susceptibility to, 1 | 2019-03-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000767095 | SCV004698542 | benign | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | RYR1: BS1, BS2 |