NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) AND Developmental and epileptic encephalopathy, 42

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Jun 1, 2023
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:: RCV003230272.3

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)]

NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)

Gene:

CACNA1A:calcium voltage-gated channel subunit alpha1 A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

Preferred name:

NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)

HGVS:

NC_000019.10:g.13359749G>A
NG_011569.1:g.151712C>T
NM_000068.4:c.835C>T
NM_001127221.2:c.835C>T
NM_001127222.2:c.835C>TMANE SELECT
NM_001174080.2:c.835C>T
NM_023035.1:c.835C>T
NM_023035.3:c.835C>T
NP_000059.3:p.Arg279Cys
NP_001120693.1:p.Arg279Cys
NP_001120693.1:p.Arg279Cys
NP_001120694.1:p.Arg279Cys
NP_001167551.1:p.Arg279Cys
NP_075461.2:p.Arg279Cys
LRG_7t1:c.835C>T
LRG_7:g.151712C>T
LRG_7p1:p.Arg279Cys
NC_000019.9:g.13470563G>A
NM_000068.2:c.835C>T
NM_001127221.1:c.835C>T
NM_001127222.2:c.835C>T
NM_023035.2:c.835C>T

Protein change:

R279C

Links:

dbSNP: rs1555773764

NCBI 1000 Genomes Browser:

rs1555773764

Molecular consequence:

NM_000068.4:c.835C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127221.2:c.835C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127222.2:c.835C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001174080.2:c.835C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_023035.3:c.835C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Developmental and epileptic encephalopathy, 42 (DEE42)
Synonyms:: Epileptic encephalopathy, early infantile, 42
Identifiers:: MONDO: MONDO:0014917; MedGen: C4310716; OMIM: 617106

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003928013	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 1, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003930354	Pediatric Department, Xiangya Hospital, Central South University	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 7, 2021)	paternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003928013

Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 1, 2023)

germline

clinical testing

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

SCV003930354

Pediatric Department, Xiangya Hospital, Central South University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 7, 2021)

paternal

clinical testing

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

Help

Summary from all submissions

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

Details of each submission

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV003928013.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Pediatric Department, Xiangya Hospital, Central South University, SCV003930354.1

#	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	paternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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