NM_001127222.2(CACNA1A):c.4175T>C (p.Val1392Ala) AND Developmental and epileptic encephalopathy, 42

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 3, 2022
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:: RCV002466277.2

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.4175T>C (p.Val1392Ala)]

NM_001127222.2(CACNA1A):c.4175T>C (p.Val1392Ala)

Genes:

LOC126862864:MED14-independent group 3 enhancer GRCh37_chr19:13371552-13372751 [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.4175T>C (p.Val1392Ala)

HGVS:

NC_000019.10:g.13261525A>G
NG_011569.1:g.249936T>C
NM_000068.4:c.4187T>C
NM_001127221.2:c.4178T>C
NM_001127222.2:c.4175T>CMANE SELECT
NM_001174080.2:c.4178T>C
NM_023035.3:c.4187T>C
NP_000059.3:p.Val1396Ala
NP_001120693.1:p.Val1393Ala
NP_001120694.1:p.Val1392Ala
NP_001167551.1:p.Val1393Ala
NP_075461.2:p.Val1396Ala
LRG_7t1:c.4178T>C
LRG_7:g.249936T>C
NC_000019.9:g.13372339A>G
NM_001127221.1:c.4178T>C

Protein change:

V1392A

Links:

dbSNP: rs2144767386

NCBI 1000 Genomes Browser:

rs2144767386

Molecular consequence:

NM_000068.4:c.4187T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127221.2:c.4178T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001127222.2:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001174080.2:c.4178T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_023035.3:c.4187T>C - 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
SCV002761262	Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 3, 2022)	de novo	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

SCV002761262

Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 3, 2022)

de novo

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	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 Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine, SCV002761262.1

#	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

Last Updated: Sep 29, 2024

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