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NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys) AND RYR1-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 11, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000540830.4

Allele description [Variation Report for NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys)]

NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys)

Gene:
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys)
Other names:
NM_000540.2(RYR1):c.4747C>T; p.Arg1583Cys
HGVS:
  • NC_000019.10:g.38483329C>T
  • NG_008866.1:g.54630C>T
  • NM_000540.3:c.4747C>TMANE SELECT
  • NM_001042723.2:c.4747C>T
  • NP_000531.2:p.Arg1583Cys
  • NP_000531.2:p.Arg1583Cys
  • NP_001036188.1:p.Arg1583Cys
  • LRG_766t1:c.4747C>T
  • LRG_766:g.54630C>T
  • LRG_766p1:p.Arg1583Cys
  • NC_000019.9:g.38973969C>T
  • NC_000019.9:g.38973969C>T
  • NM_000540.2:c.4747C>T
Protein change:
R1583C
Links:
dbSNP: rs754476250
NCBI 1000 Genomes Browser:
rs754476250
Molecular consequence:
  • NM_000540.3:c.4747C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.4747C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
RYR1-related disorder
Synonyms:
RYR1-Related Disorders; RYR1-related condition
Identifiers:
MedGen: CN239331

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000659943Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Feb 11, 2022)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases.

Broman M, Gehrig A, Islander G, Bodelsson M, Ranklev-Twetman E, Rüffert H, Müller CR.

Br J Anaesth. 2009 May;102(5):642-9. doi: 10.1093/bja/aep061. Epub 2009 Apr 3.

PubMed [citation]
PMID:
19346234

Sequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia.

Schiemann AH, Dürholt EM, Pollock N, Stowell KM.

Br J Anaesth. 2013 Jan;110(1):122-7. doi: 10.1093/bja/aes341. Epub 2012 Oct 3.

PubMed [citation]
PMID:
23035052
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000659943.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1583 of the RYR1 protein (p.Arg1583Cys). This variant is present in population databases (rs754476250, gnomAD 0.2%). This missense change has been observed in individual(s) with clinical features of RYR1-related conditions (PMID: 19346234, 23035052). ClinVar contains an entry for this variant (Variation ID: 329032). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024