NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu) AND Long QT syndrome 8

Clinical significance:Pathogenic (Last evaluated: Aug 6, 2021)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000782178.4

Allele description [Variation Report for NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu)]

NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu)

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.2570C>T (p.Pro857Leu)
HGVS:
  • NC_000012.12:g.2593252C>T
  • NG_008801.2:g.627467C>T
  • NM_000719.7:c.2570C>TMANE SELECT
  • NM_001129827.2:c.2570C>T
  • NM_001129829.2:c.2570C>T
  • NM_001129830.3:c.2570C>T
  • NM_001129831.2:c.2570C>T
  • NM_001129832.2:c.2570C>T
  • NM_001129833.2:c.2570C>T
  • NM_001129834.2:c.2570C>T
  • NM_001129835.1:c.2570C>T
  • NM_001129835.2:c.2570C>T
  • NM_001129836.2:c.2570C>T
  • NM_001129837.2:c.2570C>T
  • NM_001129838.2:c.2570C>T
  • NM_001129839.2:c.2570C>T
  • NM_001129840.2:c.2570C>T
  • NM_001129841.2:c.2570C>T
  • NM_001129842.2:c.2570C>T
  • NM_001129843.2:c.2570C>T
  • NM_001129844.2:c.2561C>T
  • NM_001129846.2:c.2570C>T
  • NM_001167623.2:c.2570C>T
  • NM_001167624.3:c.2570C>T
  • NM_001167625.2:c.2570C>T
  • NM_199460.4:c.2570C>T
  • NP_000710.5:p.Pro857Leu
  • NP_001123299.1:p.Pro857Leu
  • NP_001123301.1:p.Pro857Leu
  • NP_001123302.2:p.Pro857Leu
  • NP_001123303.1:p.Pro857Leu
  • NP_001123304.1:p.Pro857Leu
  • NP_001123305.1:p.Pro857Leu
  • NP_001123306.1:p.Pro857Leu
  • NP_001123307.1:p.Pro857Leu
  • NP_001123307.1:p.Pro857Leu
  • NP_001123308.1:p.Pro857Leu
  • NP_001123309.1:p.Pro857Leu
  • NP_001123310.1:p.Pro857Leu
  • NP_001123311.1:p.Pro857Leu
  • NP_001123312.1:p.Pro857Leu
  • NP_001123313.1:p.Pro857Leu
  • NP_001123314.1:p.Pro857Leu
  • NP_001123315.1:p.Pro857Leu
  • NP_001123316.1:p.Pro854Leu
  • NP_001123318.1:p.Pro857Leu
  • NP_001161095.1:p.Pro857Leu
  • NP_001161096.2:p.Pro857Leu
  • NP_001161097.1:p.Pro857Leu
  • NP_955630.3:p.Pro857Leu
  • LRG_334t1:c.2570C>T
  • LRG_334:g.627467C>T
  • NC_000012.11:g.2702418C>T
  • NC_000012.11:g.2702418C>T
  • NM_000719.6:c.2570C>T
Protein change:
P854L; PRO857LEU
Links:
OMIM: 114205.0006; dbSNP: rs750835733
NCBI 1000 Genomes Browser:
rs750835733
Molecular consequence:
  • NM_000719.7:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129827.2:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129829.2:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129830.3:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129831.2:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129832.2:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129833.2:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129834.2:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129835.1:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129835.2:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129836.2:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129837.2:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129838.2:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129839.2:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129840.2:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129841.2:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129842.2:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129843.2:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129844.2:c.2561C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129846.2:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167623.2:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167624.3:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001167625.2:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199460.4:c.2570C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Long QT syndrome 8 (LQT8)
Identifiers:
MONDO: MONDO:0032756; MedGen: CN260585; OMIM: 618447

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000920646OMIMno assertion criteria providedPathogenic
(Aug 6, 2021)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.

Boczek NJ, Best JM, Tester DJ, Giudicessi JR, Middha S, Evans JM, Kamp TJ, Ackerman MJ.

Circ Cardiovasc Genet. 2013 Jun;6(3):279-89.

PubMed [citation]
PMID:
23677916
PMCID:
PMC3760222

Details of each submission

From OMIM, SCV000920646.57

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

By sequencing the CACNA1C gene in an asymptomatic 15-year-old boy who was diagnosed with long QT syndrome (LQT8; 618447) following the unexplained death of his 12-year-old sister during sleep, Boczek et al. (2013) identified a c.2570C-T transition, resulting in a pro857-to-leu (P857L) substitution in the PEST domain. No mutations in previously identified causative genes had been found, and the mutation segregated with the phenotype in available family members tested, including the unaffected father and affected mother and maternal grandmother. The variant was not found in the 1000 Genomes Project or NHLBI Exome Sequencing project databases or in 680 controls. No functional studies were reported.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 24, 2021

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