Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Link to SEPIO compliant JSON-LD document

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

CA405669616

1330372 (ClinVar)

Gene: RYR1

Condition: malignant hyperthermia of anesthesia

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

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

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

PS4_Supporting PP3_Moderate PM1

Evidence Links 0

Expert Panel

Malignant Hyperthermia Susceptibility VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Malignant Hyperthermia Susceptibility VCEP

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).

PP3_Moderate

A REVEL score >0.85 (0.921) supports a pathogenic status for this variant, PP3_Moderate.

PM1

This variant resides in a region of RYR1 considered to be a hotspot for pathogenic variants that contribute to MHS, PM1 (PMID: 21118704).

Approved on: 2023-04-06

Published on: 2023-04-06

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