NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(2) (Last evaluated: May 17, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000487733.6

Allele description [Variation Report for NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His)]

NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His)

Gene:
CACNA1S:calcium voltage-gated channel subunit alpha1 S [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His)
HGVS:
  • NC_000001.11:g.201078005C>T
  • NG_009816.1:g.39562G>A
  • NG_009816.2:g.39562G>A
  • NM_000069.3:c.1493G>AMANE SELECT
  • NP_000060.2:p.Arg498His
  • NC_000001.10:g.201047133C>T
  • NM_000069.2:c.1493G>A
Protein change:
R498H
Links:
dbSNP: rs150590855
NCBI 1000 Genomes Browser:
rs150590855
Molecular consequence:
  • NM_000069.3:c.1493G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000574805CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Oct 1, 2016)
germlineclinical testing

Citation Link,

SCV001474977Athena Diagnostics Inccriteria provided, single submitter
Likely benign
(Dec 2, 2019)
unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV001794674GeneDxcriteria provided, single submitter
Uncertain significance
(May 17, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Using exome data to identify malignant hyperthermia susceptibility mutations.

Gonsalves SG, Ng D, Johnston JJ, Teer JK, Stenson PD, Cooper DN, Mullikin JC, Biesecker LG; NISC Comparative Sequencing Program..

Anesthesiology. 2013 Nov;119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7.

PubMed [citation]
PMID:
24195946
PMCID:
PMC4077354

Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.

Fiszer D, Shaw MA, Fisher NA, Carr IM, Gupta PK, Watkins EJ, Roiz de Sa D, Kim JH, Hopkins PM.

Anesthesiology. 2015 May;122(5):1033-46. doi: 10.1097/ALN.0000000000000610.

PubMed [citation]
PMID:
25658027
PMCID:
PMC4472733
See all PubMed Citations (3)

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV000574805.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Athena Diagnostics Inc, SCV001474977.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001794674.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported in an individual with exertional heat illness who harbored an additional variant in the CACNA1S gene and was not susceptible to malignant hyperthermia by in vitro contracture test (Fiszer et al., 2015); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function This variant is associated with the following publications: (PMID: 25658027)

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

Last Updated: Nov 27, 2021

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