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NM_000540.3(RYR1):c.1837G>C (p.Val613Leu) AND Central core myopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 19, 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:
RCV003991271.2

Allele description [Variation Report for NM_000540.3(RYR1):c.1837G>C (p.Val613Leu)]

NM_000540.3(RYR1):c.1837G>C (p.Val613Leu)

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.1837G>C (p.Val613Leu)
HGVS:
  • NC_000019.10:g.38457542G>C
  • NG_008866.1:g.28843G>C
  • NM_000540.3:c.1837G>CMANE SELECT
  • NM_001042723.2:c.1837G>C
  • NP_000531.2:p.Val613Leu
  • NP_000531.2:p.Val613Leu
  • NP_001036188.1:p.Val613Leu
  • LRG_766t1:c.1837G>C
  • LRG_766:g.28843G>C
  • LRG_766p1:p.Val613Leu
  • NC_000019.9:g.38948182G>C
  • NM_000540.2:c.1837G>C
Protein change:
V613L
Molecular consequence:
  • NM_000540.3:c.1837G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.1837G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Central core myopathy (CMYO1A)
Synonyms:
Central core disease; Central core disease of muscle; Muscle core disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007294; MedGen: C0751951; Orphanet: 597; OMIM: 117000

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004808597MVZ Medizinische Genetik Mainz
criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)		Uncertain significance
(Aug 19, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV004808597.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

ACMG Criteria: PM2_SUP, PP3 (ACMG Version 4)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 29, 2024