Variant: NM_001042723.2:c.7307G>A

CA405669616

1330372 (ClinVar)

Gene: RYR1

Condition: malignant hyperthermia of anesthesia

Inheritance Mode: Autosomal dominant inheritance

UUID: 205dbbd5-a3b5-4048-a18e-8263e1cdd6df

Approved on: 2023-04-06

Published on: 2023-04-06

HGVS expressions

NM_001042723.2:c.7307G>A
NC_000019.10:g.38500000G>A
CM000681.2:g.38500000G>A
NC_000019.9:g.38990640G>A
CM000681.1:g.38990640G>A
NC_000019.8:g.43682480G>A
NG_008866.1:g.71301G>A
ENST00000599547.6:n.7307G>A
ENST00000359596.8:c.7307G>A
ENST00000355481.8:c.7307G>A
ENST00000359596.7:n.7307G>A
ENST00000360985.7:c.7304G>A
ENST00000594335.5:n.759G>A
NM_000540.2:c.7307G>A
NM_001042723.1:c.7307G>A
NM_000540.3:c.7307G>A
NM_000540.3(RYR1):c.7307G>A (p.Cys2436Tyr)

Uncertain Significance

• Met criteria codes: PS4_Supporting PM1 PP3_Moderate

Expert Panel

Malignant Hyperthermia Susceptibility VCEP

Criteria Specification Information

Evidence submitted by expert panel

Malignant Hyperthermia Susceptibility VCEP

Met criteria codes

• PS4_Supporting: This variant has been reported in an individual with a personal or family history of an MH episode and a positive in vitro contracture test (IVCT) or caffeine halothane contracture test (CHCT) result (if the proband was unavailable for testing, a positive diagnostic test result in a mutation-positive relative was counted), PS4_Supporting (PMID:30236257).
• PM1: This variant resides in a region of RYR1 considered to be a hotspot for pathogenic variants that contribute to MHS, PM1 (PMID: 21118704).
• PP3_Moderate: A REVEL score >0.85 (0.921) supports a pathogenic status for this variant, PP3_Moderate.