ClinVar Genomic variation as it relates to human health
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Drug response
Mar 2021 by
PharmGKB
for
desflurane response - Toxicity
Drug response
Mar 2021 by
PharmGKB
for
enflurane response - Toxicity
Drug response
Mar 2021 by
PharmGKB
for
halothane response - Toxicity
Drug response
Mar 2021 by
PharmGKB
for
isoflurane response - Toxicity
Drug response
Mar 2021 by
PharmGKB
for
methoxyflurane response - Toxicity
Drug response
Mar 2021 by
PharmGKB
for
succinylcholine response - Toxicity
Drug response
Mar 2021 by
PharmGKB
for
sevoflurane response - Toxicity
Likely pathogenic
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
RYR1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
8904 | 9218 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic/Likely pathogenic (3) |
|
Nov 4, 2021 | RCV000119679.14 | |
Pathogenic (1) |
|
Dec 5, 2014 | RCV000171131.15 | |
Pathogenic (1) |
|
Sep 27, 2022 | RCV001384027.13 | |
isoflurane response - Toxicity
|
drug response (1) |
|
Mar 24, 2021 | RCV001787982.10 |
sevoflurane response - Toxicity
|
drug response (1) |
|
Mar 24, 2021 | RCV001787984.10 |
methoxyflurane response - Toxicity
|
drug response (1) |
|
Mar 24, 2021 | RCV001787983.10 |
desflurane response - Toxicity
|
drug response (1) |
|
Mar 24, 2021 | RCV001787979.10 |
succinylcholine response - Toxicity
|
drug response (1) |
|
Mar 24, 2021 | RCV001787985.10 |
enflurane response - Toxicity
|
drug response (1) |
|
Mar 24, 2021 | RCV001787980.10 |
halothane response - Toxicity
|
drug response (1) |
|
Mar 24, 2021 | RCV001787981.10 |
Likely pathogenic (2) |
|
Apr 6, 2023 | RCV000013850.14 | |
Citations for germline classification of this variant
HelpText-mined citations for rs121918596 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Oct 08, 2024