NM_000540.3(RYR1):c.7072A>C (p.Ile2358Leu) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jun 22, 2022
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:: RCV000721637.7

Allele description [Variation Report for NM_000540.3(RYR1):c.7072A>C (p.Ile2358Leu)]

NM_000540.3(RYR1):c.7072A>C (p.Ile2358Leu)

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.7072A>C (p.Ile2358Leu)

HGVS:

NC_000019.10:g.38499679A>C
NG_008866.1:g.70980A>C
NM_000540.3:c.7072A>CMANE SELECT
NM_001042723.2:c.7072A>C
NP_000531.2:p.Ile2358Leu
NP_000531.2:p.Ile2358Leu
NP_001036188.1:p.Ile2358Leu
LRG_766t1:c.7072A>C
LRG_766:g.70980A>C
LRG_766p1:p.Ile2358Leu
NC_000019.9:g.38990319A>C
NM_000540.2:c.7072A>C

Protein change:

I2358L

Links:

dbSNP: rs759306349

NCBI 1000 Genomes Browser:

rs759306349

Molecular consequence:

NM_000540.3:c.7072A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001042723.2:c.7072A>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000852749	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 20, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002770438	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Jun 22, 2022)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 31559918, 23558838, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000852749

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 20, 2017)

germline

clinical testing

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

SCV002770438

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Jun 22, 2022)

unknown

clinical testing

PubMed (3)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.

Sadhasivam S, Brandom BW, Henker RA, McAuliffe JJ.

Pharmacogenomics. 2019 Sep;20(14):989-1003. doi: 10.2217/pgs-2019-0055.

PubMed [citation]

PMID:: 31559918
PMCID:: PMC7006767

See all PubMed Citations (4)

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV000852749.1

#	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 Athena Diagnostics, SCV002770438.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

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

Last Updated: Sep 29, 2024

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