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NM_000540.3(RYR1):c.577T>A (p.Ser193Thr) AND RYR1-related myopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 27, 2024
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV004992176.1

Allele description [Variation Report for NM_000540.3(RYR1):c.577T>A (p.Ser193Thr)]

NM_000540.3(RYR1):c.577T>A (p.Ser193Thr)

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.577T>A (p.Ser193Thr)
Other names:
NM_000540.3(RYR1):c.577T>A; p.Ser193Thr
HGVS:
  • NC_000019.10:g.38444623T>A
  • NG_008866.1:g.15924T>A
  • NM_000540.3:c.577T>AMANE SELECT
  • NM_001042723.2:c.577T>A
  • NP_000531.2:p.Ser193Thr
  • NP_000531.2:p.Ser193Thr
  • NP_001036188.1:p.Ser193Thr
  • LRG_766t1:c.577T>A
  • LRG_766:g.15924T>A
  • LRG_766p1:p.Ser193Thr
  • NC_000019.9:g.38935263T>A
  • NM_000540.2:c.577T>A
Protein change:
S193T
Links:
dbSNP: rs886054379
NCBI 1000 Genomes Browser:
rs886054379
Molecular consequence:
  • NM_000540.3:c.577T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.577T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
RYR1-related myopathy
Identifiers:
MONDO: MONDO:0100150; MedGen: CN305348

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005619839ClinGen Congenital Myopathies Variant Curation Expert Panel, ClinGen
reviewed by expert panel

(ClinGen CongenMyopathy ACMG Specifications RYR1 AD V2.0.0)		Uncertain Significance
(Aug 27, 2024) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen Congenital Myopathies Variant Curation Expert Panel, ClinGen, SCV005619839.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.577T>A variant in RYR1 is a missense variant predicted to cause substitution of serine by threonine at amino acid 193 (p.Ser193Thr). The highest population minor allele frequency in gnomAD v4.1 is 0.00002712 (32/1179992) in the European (non-Finnish) population (PM2_Supporting, BS1, and BA1 are not met). The REVEL score is 0.78, which is greater than the threshold of ≥ 0.7 set by the CM VCEP (PP3). In summary, this variant meets the criteria to be classified as uncertain significance for AD/AR RYR1-related myopathy based on the ACMG/AMP criteria applied, as specified by the ClinGen Congenital Myopathies VCEP: PP3. (ClinGen Congenital Myopathies VCEP specifications version 2; 08/27/2024)

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

Last Updated: Mar 16, 2025