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NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) AND King Denborough syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 11, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001731347.2

Allele description [Variation Report for NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)]

NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)

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.7522C>T (p.Arg2508Cys)
Other names:
NM_000540.2(RYR1):c.7522C>T
HGVS:
  • NC_000019.10:g.38500898C>T
  • NG_008866.1:g.72199C>T
  • NM_000540.3:c.7522C>TMANE SELECT
  • NM_001042723.2:c.7522C>T
  • NP_000531.2:p.Arg2508Cys
  • NP_000531.2:p.Arg2508Cys
  • NP_001036188.1:p.Arg2508Cys
  • LRG_766t1:c.7522C>T
  • LRG_766:g.72199C>T
  • LRG_766p1:p.Arg2508Cys
  • NC_000019.9:g.38991538C>T
  • NM_000540.2:c.7522C>T
  • NP_000531.2:p.R2508C
  • P21817:p.Arg2508Cys
  • p.(Arg2508Cys)
Protein change:
R2508C; ARG2508CYS
Links:
UniProtKB: P21817#VAR_075399; OMIM: 180901.0043; dbSNP: rs118192178
NCBI 1000 Genomes Browser:
rs118192178
Molecular consequence:
  • NM_000540.3:c.7522C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.7522C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
King Denborough syndrome (KDS)
Synonyms:
King syndrome
Identifiers:
MONDO: MONDO:0020485; MedGen: C1840365; OMIM: 619542

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001977100OMIM
no assertion criteria provided
Pathogenic
(Oct 11, 2021) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Intraoperative Presentation of Malignant Hyperthermia (Confirmed by RYR1 Gene Mutation, c.7522C>T; p.R2508C) Leads to Diagnosis of King-Denborough Syndrome in a Child With Hypotonia and Dysmorphic Features: A Case Report.

Joseph MR, Theroux MC, Mooney JJ, Falitz S, Brandom BW, Byler DL.

A A Case Rep. 2017 Feb 1;8(3):55-57. doi: 10.1213/XAA.0000000000000421.

PubMed [citation]
PMID:
27918309

Details of each submission

From OMIM, SCV001977100.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 2-year-old boy with King-Denborough syndrome (KDS; 619542), Joseph et al. (2017) identified heterozygosity for an c.7522C-T transition in the RYR1 gene, resulting in an arg2508-to-cys (R2508C) substitution. The mutation was identified by RYR1 gene sequencing. Functional studies were not performed.

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

Last Updated: Jun 9, 2024