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NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) AND Paramyotonia congenita of Von Eulenburg

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 18, 2021
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:
RCV001564044.4

Allele description [Variation Report for NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)]

NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)

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.4364T>C (p.Ile1455Thr)
HGVS:
  • NC_000017.11:g.63941918A>G
  • NG_011699.1:g.36001T>C
  • NG_042788.1:g.24826A>G
  • NM_000334.4:c.4364T>CMANE SELECT
  • NP_000325.4:p.Ile1455Thr
  • NC_000017.10:g.62019278A>G
Protein change:
I1455T
Links:
dbSNP: rs377176361
NCBI 1000 Genomes Browser:
rs377176361
Molecular consequence:
  • NM_000334.4:c.4364T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Paramyotonia congenita of Von Eulenburg
Synonyms:
Paramyotonia congenita; Paralysis periodica paramyotonica; Eulenburg disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008195; MedGen: C0221055; Orphanet: 684; OMIM: 168300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001787136HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 18, 2021) 		paternalresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not providednot provided1not providedresearch

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 HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq, SCV001787136.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

ACMG codes: PS3; PS4M; PM1; PM2; PP1S; PP3; PP5

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024