NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys) AND not provided

Germline classification:: Pathogenic/Likely pathogenic (3 submissions)
Last evaluated:: Oct 12, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000119577.6

Allele description [Variation Report for NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys)]

NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys)

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.1597C>T (p.Arg533Cys)

Other names:

NM_000540.2(RYR1):c.1597C>T

HGVS:

NC_000019.10:g.38455471C>T
NG_008866.1:g.26772C>T
NM_000540.3:c.1597C>TMANE SELECT
NM_001042723.2:c.1597C>T
NP_000531.2:p.Arg533Cys
NP_000531.2:p.Arg533Cys
NP_001036188.1:p.Arg533Cys
LRG_766t1:c.1597C>T
LRG_766:g.26772C>T
LRG_766p1:p.Arg533Cys
NC_000019.9:g.38946111C>T
NC_000019.9:g.38946111C>T
NM_000540.2:c.1597C>T
P21817:p.Arg533Cys
p.(Arg533Cys)

Protein change:

R533C

Links:

UniProtKB: P21817#VAR_045708; dbSNP: rs193922768

NCBI 1000 Genomes Browser:

rs193922768

Molecular consequence:

NM_000540.3:c.1597C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001042723.2:c.1597C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000154484	Leiden Muscular Dystrophy (RYR1)	no classification provided	not provided	unknown	not provided	PubMed (1) [See all records that cite this PMID]
SCV002019096	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 11, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002501467	AiLife Diagnostics, AiLife Diagnostics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 12, 2021)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 12709367, 30788618, 23459219, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000154484

Leiden Muscular Dystrophy (RYR1)

no classification provided

not provided

unknown

not provided

PubMed (1)
[See all records that cite this PMID]

SCV002019096

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 11, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002501467

AiLife Diagnostics, AiLife Diagnostics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 12, 2021)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles.

Tammaro A, Bracco A, Cozzolino S, Esposito M, Di Martino A, Savoia G, Zeuli L, Piluso G, Aurino S, Nigro V.

Clin Chem. 2003 May;49(5):761-8.

PubMed [citation]

PMID:: 12709367

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.

Knuiman GJ, Küsters B, Eshuis L, Snoeck M, Lammens M, Heytens L, De Ridder W, Baets J, Scalco RS, Quinlivan R, Holton J, Bodi I, Wraige E, Radunovic A, von Landenberg C, Reimann J, Kamsteeg EJ, Sewry C, Jungbluth H, Voermans NC.

J Neurol. 2019 Apr;266(4):876-887. doi: 10.1007/s00415-019-09209-z. Epub 2019 Feb 20.

PubMed [citation]

PMID:: 30788618
PMCID:: PMC6420893

See all PubMed Citations (4)

Details of each submission

From Leiden Muscular Dystrophy (RYR1), SCV000154484.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV002019096.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From AiLife Diagnostics, AiLife Diagnostics, SCV002501467.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (4)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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