VCV000521114.4 - ClinVar

NM_001127222.2(CACNA1A):c.7424G>T (p.Gly2475Val)

Germline

Classification

criteria provided, single submitter. Learn more about how ClinVar calculates review status.

Uncertain significance
Uncertain significance (1)

This classification is based on the single submission received

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_001127222.2(CACNA1A):c.7424G>T (p.Gly2475Val)

Variation ID: 521114 Accession: VCV000521114.4

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 19p13.13 19: 13207410 (GRCh38) [ NCBI UCSC ] 19: 13318224 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Apr 15, 2018	Apr 13, 2025	Apr 2, 2018

HGVS

Nucleotide	Protein	Molecular consequence
NM_001127222.2:c.7424G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_001120694.1:p.Gly2475Val	missense
NM_001127221.2:c.*636G>T MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.		3 prime UTR
NM_000068.4:c.*636G>T		3 prime UTR
NM_001174080.2:c.*636G>T		3 prime UTR
NM_023035.3:c.7442G>T	NP_075461.2:p.Gly2481Val	missense
NC_000019.10:g.13207410C>A
NC_000019.9:g.13318224C>A
NG_011569.1:g.304051G>T
LRG_7:g.304051G>T
LRG_7t1:c.*636G>T

... more HGVS ... less HGVS

Protein change

G2475V, G2481V

Other names

Canonical SPDI

NC_000019.10:13207409:C:A

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA404326822 dbSNP: rs1239663368 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
CACNA1A		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	4174	4537

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Inborn genetic diseases	Uncertain significance (1)	criteria provided, single submitter	Apr 2, 2018	RCV000624383.4

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	Expand all rows Collapse all rows Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Uncertain significance (Apr 02, 2018) C Contributing to aggregate classification	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Inborn genetic diseases	Ambry Genetics Accession: SCV000741554.4 First in ClinVar: Apr 15, 2018 Last updated: Apr 13, 2025	Publications: PubMed (1) PubMed: 22249839 Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes more Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes Number of individuals with the variant: 1 Clinical Features: Cerebellar ataxia (present) , Dysarthria (present) , Dysmetria (present) , Cerebral atrophy (present) , Cerebellar atrophy (present) , Atrophy/Degeneration affecting the brainstem (present) Sex: female Ethnicity/Population group: Unknown

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.	Rajakulendran S	Nature reviews. Neurology	2012	PMID: 22249839

Text-mined citations for rs1239663368 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 13, 2025