NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val) AND Developmental and epileptic encephalopathy, 42

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Nov 26, 2021
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:: RCV001089748.2

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val)]

NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val)

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.322A>G (p.Ile108Val)

HGVS:

NC_000019.10:g.13455184T>C
NG_011569.1:g.56277A>G
NM_000068.4:c.322A>G
NM_001127221.2:c.322A>G
NM_001127222.2:c.322A>GMANE SELECT
NM_001174080.2:c.322A>G
NM_023035.3:c.322A>G
NP_000059.3:p.Ile108Val
NP_001120693.1:p.Ile108Val
NP_001120693.1:p.Ile108Val
NP_001120694.1:p.Ile108Val
NP_001167551.1:p.Ile108Val
NP_075461.2:p.Ile108Val
LRG_7t1:c.322A>G
LRG_7:g.56277A>G
LRG_7p1:p.Ile108Val
NC_000019.9:g.13565998T>C
NM_001127221.1:c.322A>G
p.Ile108Val

Protein change:

I108V

Links:

dbSNP: rs1599294284

NCBI 1000 Genomes Browser:

rs1599294284

Molecular consequence:

NM_000068.4:c.322A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127221.2:c.322A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127222.2:c.322A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001174080.2:c.322A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_023035.3:c.322A>G - 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
SCV001245235	Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 14, 2020)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002028293	Blueprint Genetics	criteria provided, single submitter (Variant Classification)	Likely pathogenic (Nov 26, 2021)	de novo	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001245235

Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 14, 2020)

de novo

clinical testing

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

SCV002028293

Blueprint Genetics

criteria provided, single submitter

(Variant Classification)

Likely pathogenic
(Nov 26, 2021)

de novo

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	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 Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics, SCV001245235.1

#	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	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Blueprint Genetics, SCV002028293.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Sep 29, 2024

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