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NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV003483425.1

Allele description [Variation Report for NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)]

NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)

Genes:
GH-LCR:growth hormone locus control region [Gene]
SCN4A:sodium voltage-gated channel alpha subunit 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.3
Genomic location:
Preferred name:
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)
HGVS:
  • NC_000017.11:g.63941939C>T
  • NG_011699.1:g.35980G>A
  • NG_042788.1:g.24847C>T
  • NM_000334.4:c.4343G>AMANE SELECT
  • NP_000325.4:p.Arg1448His
  • NP_000325.4:p.Arg1448His
  • NC_000017.10:g.62019299C>T
  • P35499:p.Arg1448His
Protein change:
R1448H; ARG1448HIS
Links:
UniProtKB: P35499#VAR_001573; OMIM: 603967.0004; dbSNP: rs121908545
NCBI 1000 Genomes Browser:
rs121908545
Molecular consequence:
  • NM_000334.4:c.4343G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Potassium-aggravated myotonia
Synonyms:
MYOTONIA CONGENITA, ACETAZOLAMIDE-RESPONSIVE; MYOTONIA CONGENITA, ATYPICAL; SODIUM CHANNEL MUSCLE DISEASE
Identifiers:
MONDO: MONDO:0018959; MedGen: C2931826; Orphanet: 612; Orphanet: 99734; Orphanet: 99735; Orphanet: 99736; OMIM: 608390
Name:
Paramyotonia congenita of Von Eulenburg
Synonyms:
PARALYSIS PERIODICA PARAMYOTONICA; Eulenburg disease; Myotonia congenita intermittens; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008195; MedGen: C0221055; Orphanet: 684; OMIM: 168300
Name:
Hypokalemic periodic paralysis, type 2 (HOKPP2)
Identifiers:
MONDO: MONDO:0013234; MedGen: C2750061; Orphanet: 681; OMIM: 613345
Name:
Hyperkalemic periodic paralysis
Synonyms:
Familial hyperkalemic periodic paralysis; Gamstorp disease
Identifiers:
MONDO: MONDO:0008224; MedGen: C0238357; Orphanet: 682; OMIM: 170500; Human Phenotype Ontology: HP:0007215
Name:
Congenital myasthenic syndrome 16
Synonyms:
Congenital myasthenic syndrome, acetazolamide-responsive
Identifiers:
MONDO: MONDO:0013620; MedGen: C3280112; Orphanet: 590; OMIM: 614198

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004228782GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV004228782.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Pathogenic and reported on 12-14-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Jan 25, 2025