NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Nov 30, 2023
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:: RCV000170780.10

Allele description [Variation Report for NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys)]

NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys)

Gene:

CACNA1C:calcium voltage-gated channel subunit alpha1 C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.33

Genomic location:

Preferred name:

NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys)

Other names:

p.R518C:CGC>TGC

HGVS:

NC_000012.12:g.2566465C>T
NG_008801.2:g.600680C>T
NM_000719.7:c.1552C>TMANE SELECT
NM_001129827.2:c.1552C>T
NM_001129829.2:c.1552C>T
NM_001129830.3:c.1552C>T
NM_001129831.2:c.1552C>T
NM_001129832.2:c.1552C>T
NM_001129833.2:c.1552C>T
NM_001129834.2:c.1552C>T
NM_001129835.2:c.1552C>T
NM_001129836.2:c.1552C>T
NM_001129837.2:c.1552C>T
NM_001129838.2:c.1552C>T
NM_001129839.2:c.1552C>T
NM_001129840.2:c.1552C>T
NM_001129841.2:c.1552C>T
NM_001129842.2:c.1552C>T
NM_001129843.2:c.1552C>T
NM_001129844.2:c.1543C>T
NM_001129846.2:c.1552C>T
NM_001167623.2:c.1552C>T
NM_001167624.3:c.1552C>T
NM_001167625.2:c.1552C>T
NM_199460.4:c.1552C>T
NP_000710.5:p.Arg518Cys
NP_000710.5:p.Arg518Cys
NP_001123299.1:p.Arg518Cys
NP_001123299.1:p.Arg518Cys
NP_001123301.1:p.Arg518Cys
NP_001123302.1:p.Arg518Cys
NP_001123302.2:p.Arg518Cys
NP_001123303.1:p.Arg518Cys
NP_001123304.1:p.Arg518Cys
NP_001123305.1:p.Arg518Cys
NP_001123306.1:p.Arg518Cys
NP_001123307.1:p.Arg518Cys
NP_001123308.1:p.Arg518Cys
NP_001123309.1:p.Arg518Cys
NP_001123310.1:p.Arg518Cys
NP_001123311.1:p.Arg518Cys
NP_001123312.1:p.Arg518Cys
NP_001123312.1:p.Arg518Cys
NP_001123313.1:p.Arg518Cys
NP_001123314.1:p.Arg518Cys
NP_001123315.1:p.Arg518Cys
NP_001123316.1:p.Arg515Cys
NP_001123318.1:p.Arg518Cys
NP_001161095.1:p.Arg518Cys
NP_001161096.2:p.Arg518Cys
NP_001161097.1:p.Arg518Cys
NP_955630.3:p.Arg518Cys
LRG_334t1:c.1552C>T
LRG_334t2:c.1552C>T
LRG_334t3:c.1552C>T
LRG_334t4:c.1552C>T
LRG_334:g.600680C>T
LRG_334p1:p.Arg518Cys
LRG_334p2:p.Arg518Cys
LRG_334p3:p.Arg518Cys
LRG_334p4:p.Arg518Cys
NC_000012.11:g.2675631C>T
NM_000719.6:c.1552C>T
NM_001129827.1:c.1552C>T
NM_001129830.1:c.1552C>T
NM_001129840.1:c.1552C>T

Protein change:

R515C; ARG518CYS

Links:

OMIM: 114205.0016; dbSNP: rs786205748

NCBI 1000 Genomes Browser:

rs786205748

Molecular consequence:

NM_000719.7:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001129827.2:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001129829.2:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001129830.3:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001129831.2:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001129832.2:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001129833.2:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001129834.2:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001129835.2:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001129836.2:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001129837.2:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001129838.2:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001129839.2:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001129840.2:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001129841.2:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001129842.2:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001129843.2:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001129844.2:c.1543C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001129846.2:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001167623.2:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001167624.3:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001167625.2:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_199460.4:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000223335	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Nov 30, 2023)	germline	clinical testing	Citation Link,
SCV000924764	Stanford Center for Inherited Cardiovascular Disease, Stanford University	no assertion criteria provided	Likely pathogenic (Apr 14, 2016)	germline	provider interpretation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000223335

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Nov 30, 2023)

germline

clinical testing

Citation Link,

SCV000924764

Stanford Center for Inherited Cardiovascular Disease, Stanford University

no assertion criteria provided

Likely pathogenic
(Apr 14, 2016)

germline

provider interpretation

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	provider interpretation

Details of each submission

From GeneDx, SCV000223335.14

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Whole cell patch clamp studies revealed a complex phenotype, including loss of current density and inactivation in combination with increased window and late current (PMID: 26253506); This variant is associated with the following publications: (PMID: 27390944, 30513141, 30172029, 30345660, 30984024, 30681346, 31430211, 33797204, 35862440, Tikhonov2019[Review], 36454463, Vandendriessche2020[Review], 26253506, 32161207, 29071820, 34079780, 33746731, 30025578, 30584231)

#	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 Stanford Center for Inherited Cardiovascular Disease, Stanford University, SCV000924764.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	provider interpretation	not provided

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

Last Updated: Sep 29, 2024

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