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NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 14, 2024
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:
RCV005004190.1

Allele description [Variation Report for NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His)]

NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His)

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.2048G>A (p.Arg683His)
HGVS:
  • NC_000001.11:g.201074521C>T
  • NG_009816.2:g.43046G>A
  • NM_000069.3:c.2048G>AMANE SELECT
  • NP_000060.2:p.Arg683His
  • NC_000001.10:g.201043649C>T
  • NG_009816.1:g.43046G>A
  • NM_000069.2:c.2048G>A
Protein change:
R683H
Links:
dbSNP: rs141031133
NCBI 1000 Genomes Browser:
rs141031133
Molecular consequence:
  • NM_000069.3:c.2048G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypokalemic periodic paralysis, type 1
Synonyms:
HypoPP
Identifiers:
MONDO: MONDO:0042979; MedGen: C3714580; Orphanet: 681; OMIM: 170400
Name:
Malignant hyperthermia, susceptibility to, 5 (MHS5)
Identifiers:
MONDO: MONDO:0011163; MedGen: C1866077; Orphanet: 423; OMIM: 601887
Name:
Thyrotoxic periodic paralysis, susceptibility to, 1 (TTPP1)
Identifiers:
MONDO: MONDO:0008570; MedGen: C2749982; Orphanet: 79102; OMIM: 188580
Name:
Congenital myopathy 18
Synonyms:
DIHYDROPYRIDINE RECEPTOR CONGENITAL MYOPATHY; DHPR CONGENITAL MYOPATHY; Myopathy, congenital, due to dihydropyridine receptor defect
Identifiers:
MONDO: MONDO:0859514; MedGen: C5830283; OMIM: 620246

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002786270Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 14, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002786270.2

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

Last Updated: May 16, 2025