NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile) AND Developmental and epileptic encephalopathy, 62

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 21, 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:
RCV001800246.1

Allele description [Variation Report for NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile)]

NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile)

Gene:
SCN3A:sodium voltage-gated channel alpha subunit 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile)
HGVS:
  • NC_000002.12:g.165090858C>T
  • NG_042289.1:g.118231G>A
  • NM_001081676.2:c.5148G>A
  • NM_001081677.2:c.5148G>A
  • NM_006922.4:c.5295G>AMANE SELECT
  • NP_001075145.1:p.Met1716Ile
  • NP_001075146.1:p.Met1716Ile
  • NP_008853.3:p.Met1765Ile
  • NC_000002.11:g.165947368C>T
  • NM_006922.3:c.5295G>A
Protein change:
M1716I
Links:
dbSNP: rs2105619771
NCBI 1000 Genomes Browser:
rs2105619771
Molecular consequence:
  • NM_001081676.2:c.5148G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001081677.2:c.5148G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006922.4:c.5295G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Developmental and epileptic encephalopathy, 62
Synonyms:
Early infantile epileptic encephalopathy 62
Identifiers:
MONDO: MONDO:0033371; MedGen: C4693699; OMIM: 617938

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002044417Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 21, 2021) 		de novoresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.

Zaman T, Helbig KL, Clatot J, Thompson CH, Kang SK, Stouffs K, Jansen AE, Verstraete L, Jacquinet A, Parrini E, Guerrini R, Fujiwara Y, Miyatake S, Ben-Zeev B, Bassan H, Reish O, Marom D, Hauser N, Vu TA, Ackermann S, Spencer CE, Lippa N, et al.

Ann Neurol. 2020 Aug;88(2):348-362. doi: 10.1002/ana.25809. Epub 2020 Jul 9.

PubMed [citation]
PMID:
32515017
PMCID:
PMC8552104

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 Institute of Human Genetics, University of Leipzig Medical Center, SCV002044417.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023