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NM_000540.2(RYR1):c.3773G>T (p.Arg1258Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
4 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000329013.1
Variation ID:
329013
Description:
single nucleotide variant
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NM_000540.2(RYR1):c.3773G>T (p.Arg1258Leu)

Allele ID
349753
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.2
Genomic location
19: 38473384 (GRCh38) GRCh38 UCSC
19: 38964024 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.38473384G>T
NC_000019.9:g.38964024G>T
NM_000540.2:c.3773G>T NP_000531.2:p.Arg1258Leu missense
... more HGVS
Protein change
R1258L
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10652415
dbSNP: rs886054381
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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 Jun 14, 2016 RCV000304167.1
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000343582.1
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000361099.1
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000402330.1
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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
2626 2637

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Malignant Hyperthermia Susceptibility
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000412070.2
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: SCV000412068.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Multiminicore Disease
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000412067.2
Submitted: (Oct 18, 2016)
Evidence details
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: SCV000412069.2
Submitted: (Oct 18, 2016)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jan 14, 2020