Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000540.2(RYR1):c.5637C>T (p.Asp1879=)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(5)

Review status:
criteria provided, conflicting interpretations
Submissions:
8 (Most recent: Aug 20, 2021)
Last evaluated:
Jun 22, 2020
Accession:
VCV000093276.12
Variation ID:
93276
Description:
single nucleotide variant
Help

NM_000540.2(RYR1):c.5637C>T (p.Asp1879=)

Allele ID
99183
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.2
Genomic location
19: 38489266 (GRCh38) GRCh38 UCSC
19: 38979906 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.38489266C>T
NC_000019.9:g.38979906C>T
NM_000540.2:c.5637C>T NP_000531.2:p.Asp1879= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:38489265:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00016
The Genome Aggregation Database (gnomAD), exomes 0.00010
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00054
Exome Aggregation Consortium (ExAC) 0.00013
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA024532
dbSNP: rs143418190
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000280975.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000286979.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000335107.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000405493.2
Likely benign 1 criteria provided, single submitter Jun 22, 2020 RCV001088721.2
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations May 1, 2019 RCV000079153.8
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RYR1 No evidence available No evidence available GRCh38
GRCh37
3981 3995

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Congenital Neuromuscular Disease with Uniform Type 1 Fiber
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000412290.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Central Core Disease
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000412292.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Oct 17, 2013)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000111022.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Minicore myopathy with external ophthalmoplegia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000412291.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Malignant hyperthermia, susceptibility to, 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000412289.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(May 01, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001151849.6
Submitted: (Jul 04, 2021)
Evidence details
Likely benign
(Jun 22, 2020)
criteria provided, single submitter
Method: clinical testing
RYR1-Related Disorders
Allele origin: germline
Invitae
Accession: SCV000777618.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Mar 08, 2019)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001804858.1
Submitted: (Aug 20, 2021)
Evidence details

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=RYR1 - - - -

Text-mined citations for rs143418190...

Help
These 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 Aug 21, 2021