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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 19, 2022
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:: RCV002480654.4

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:: Hypokalemic periodic paralysis, type 1
Synonyms:: HypoPP
Identifiers:: MONDO: MONDO:0042979; MedGen: C3714580; Orphanet: 681; OMIM: 170400

Name:: Potassium-aggravated myotonia
Synonyms:: SODIUM CHANNEL MUSCLE DISEASE; Myotonia congenita, atypical; Myotonia congenita, acetazolamide-responsive
Identifiers:: MONDO: MONDO:0018959; MedGen: C2931826; Orphanet: 612; Orphanet: 99734; Orphanet: 99735; Orphanet: 99736; OMIM: 608390

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

Name:: Hypokalemic periodic paralysis, type 2 (HOKPP2)
Identifiers:: MONDO: MONDO:0013234; MedGen: C2750061; Orphanet: 681; OMIM: 613345

Name:: Familial hyperkalemic periodic paralysis
Synonyms:: Hyperkalemic periodic paralysis; Gamstorp episodic adynamy; 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

Recent activity

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REP-associated tyrosine transposase [Opitutus terrae]
REP-associated tyrosine transposase [Opitutus terrae]
gi|1789758688|ref|WP_158305410.1|

Protein
ATP synthase F1 subunit gamma [Opitutus terrae]
ATP synthase F1 subunit gamma [Opitutus terrae]
gi|501342067|ref|WP_012373702.1|

Protein
Gm6570 predicted gene 6570 [Mus musculus]
Gm6570 predicted gene 6570 [Mus musculus]
Gene ID:625281

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002777364	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 19, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002777364

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 19, 2022)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV002777364.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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