NM_000540.3(RYR1):c.685T>C (p.Cys229Arg) AND Congenital multicore myopathy with external ophthalmoplegia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 7, 2019
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:: RCV000995627.5

Allele description [Variation Report for NM_000540.3(RYR1):c.685T>C (p.Cys229Arg)]

NM_000540.3(RYR1):c.685T>C (p.Cys229Arg)

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.685T>C (p.Cys229Arg)

HGVS:

NC_000019.10:g.38446525T>C
NG_008866.1:g.17826T>C
NM_000540.3:c.685T>CMANE SELECT
NM_001042723.2:c.685T>C
NP_000531.2:p.Cys229Arg
NP_001036188.1:p.Cys229Arg
LRG_766:g.17826T>C
NC_000019.9:g.38937165T>C

Protein change:

C229R

Links:

dbSNP: rs1600649879

NCBI 1000 Genomes Browser:

rs1600649879

Molecular consequence:

NM_000540.3:c.685T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001042723.2:c.685T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Congenital multicore myopathy with external ophthalmoplegia (CMYO1B)
Synonyms:: MULTICORE MYOPATHY; Minicore myopathy with external ophthalmoplegia; Multicore myopathy with external ophthalmoplegia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009712; MedGen: C1850674; Orphanet: 598; OMIM: 255320; Human Phenotype Ontology: HP:0003789

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001149907	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Likely pathogenic (Jun 7, 2019)	maternal	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001149907

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Likely pathogenic
(Jun 7, 2019)

maternal

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV001149907.1

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

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

Last Updated: Jul 29, 2024

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