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NM_000069.3(CACNA1S):c.3525+1G>A

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Sep 10, 2018
Accession:
VCV000653789.1
Variation ID:
653789
Description:
single nucleotide variant
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NM_000069.3(CACNA1S):c.3525+1G>A

Allele ID
650605
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q32.1
Genomic location
1: 201059188 (GRCh38) GRCh38 UCSC
1: 201028316 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.201028316C>T
NC_000001.11:g.201059188C>T
NG_009816.1:g.58379G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:201059187:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1572033599
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Sep 10, 2018 RCV000809616.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CACNA1S No evidence available No evidence available GRCh38
GRCh37
1121 1136

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 10, 2018)
criteria provided, single submitter
Method: clinical testing
Hypokalemic periodic paralysis 1
Malignant hyperthermia susceptibility 5
Allele origin: germline
Invitae
Accession: SCV000949778.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change affects a donor splice site in intron 27 of the CACNA1S gene. It is expected to disrupt RNA splicing and likely results … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. Schartner V Acta neuropathologica 2017 PMID: 28012042
Novel pathogenic variants and genes for myopathies identified by whole exome sequencing. Hunter JM Molecular genetics & genomic medicine 2015 PMID: 26247046

Text-mined citations for rs1572033599...

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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 Oct 08, 2021