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NM_000540.2(RYR1):c.983G>A (p.Arg328Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 22, 2020
Accession:
VCV000559646.2
Variation ID:
559646
Description:
single nucleotide variant
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NM_000540.2(RYR1):c.983G>A (p.Arg328Gln)

Allele ID
550372
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.2
Genomic location
19: 38448674 (GRCh38) GRCh38 UCSC
19: 38939314 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.38448674G>A
NC_000019.9:g.38939314G>A
NM_000540.2:c.983G>A NP_000531.2:p.Arg328Gln missense
... more HGVS
Protein change
R328Q
Other names
-
Canonical SPDI
NC_000019.10:38448673:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs755875230
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jul 22, 2020 RCV001298385.1
Likely pathogenic 1 no assertion criteria provided Apr 16, 2018 RCV000677418.1
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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
4023 4037

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 22, 2020)
criteria provided, single submitter
Method: clinical testing
RYR1-Related Disorders
Allele origin: germline
Invitae
Accession: SCV001487440.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with glutamine at codon 328 of the RYR1 protein (p.Arg328Gln). The arginine residue is highly conserved and there is a … (more)
Likely pathogenic
(Apr 16, 2018)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: de novo
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals
Accession: SCV000803723.1
Submitted: (Jun 25, 2018)
Evidence details

Functional evidence

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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

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Title Author Journal Year Link
Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript. Loke JC Anesthesiology 2003 PMID: 12883402

Text-mined citations for rs755875230...

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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 Mar 12, 2021