NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 28, 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:: RCV000855484.2

Allele description [Variation Report for NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro)]

NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro)

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.7298T>C (p.Leu2433Pro)

HGVS:

NC_000019.10:g.38499991T>C
NG_008866.1:g.71292T>C
NM_000540.3:c.7298T>CMANE SELECT
NM_001042723.2:c.7298T>C
NP_000531.2:p.Leu2433Pro
NP_001036188.1:p.Leu2433Pro
LRG_766:g.71292T>C
NC_000019.9:g.38990631T>C
NC_000019.9:g.38990631T>C
NM_001042723.1:c.7298T>C

Protein change:

L2433P

Links:

dbSNP: rs1600822174

NCBI 1000 Genomes Browser:

rs1600822174

Molecular consequence:

NM_000540.3:c.7298T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001042723.2:c.7298T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Fetal akinesia deformation sequence 1 (FADS1)
Synonyms:: Pena Shokeir syndrome, type 1; Lethal Pena-Shokeir 1 syndrome; Pena-Shokeir syndrome type I; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0100101; MedGen: C1276035; Orphanet: 994; OMIM: 208150; Human Phenotype Ontology: HP:0001989

Name:: Arthrogryposis multiplex congenita (AMC)
Synonyms:: Congenital multiple arthrogryposis; Fibrous ankylosis of multiple joints; Congenital arthromyodysplasia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015168; MeSH: D001176; MedGen: C5779613; Orphanet: 1037; OMIM: PS617468; Human Phenotype Ontology: HP:0002804

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000996614	Cirak Lab, University Hospital Cologne	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 28, 2019)	maternal	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 31680123

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000996614

Cirak Lab, University Hospital Cologne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 28, 2019)

maternal

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

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

The genomic and clinical landscape of fetal akinesia.

Pergande M, Motameny S, Özdemir Ö, Kreutzer M, Wang H, Daimagüler HS, Becker K, Karakaya M, Ehrhardt H, Elcioglu N, Ostojic S, Chao CM, Kawalia A, Duman Ö, Koy A, Hahn A, Reimann J, Schoner K, Schänzer A, Westhoff JH, Schwaibold EMC, Cossee M, et al.

Genet Med. 2020 Mar;22(3):511-523. doi: 10.1038/s41436-019-0680-1. Epub 2019 Nov 4. Erratum in: Genet Med. 2020 Aug;22(8):1426-1428. doi: 10.1038/s41436-020-0839-9.

PubMed [citation]

PMID:: 31680123

Details of each submission

From Cirak Lab, University Hospital Cologne, SCV000996614.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Serbian	1	not provided	not provided	research	PubMed (2)

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

Last Updated: Oct 20, 2024

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