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NM_001330260.2(SCN8A):c.5360C>A (p.Thr1787Asn) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 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:
RCV000494231.3

Allele description [Variation Report for NM_001330260.2(SCN8A):c.5360C>A (p.Thr1787Asn)]

NM_001330260.2(SCN8A):c.5360C>A (p.Thr1787Asn)

Gene:
SCN8A:sodium voltage-gated channel alpha subunit 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_001330260.2(SCN8A):c.5360C>A (p.Thr1787Asn)
HGVS:
  • NC_000012.12:g.51806846C>A
  • NG_021180.3:g.221889C>A
  • NM_001177984.3:c.5237C>A
  • NM_001330260.2:c.5360C>AMANE SELECT
  • NM_001369788.1:c.5237C>A
  • NM_014191.4:c.5360C>A
  • NP_001171455.1:p.Thr1746Asn
  • NP_001317189.1:p.Thr1787Asn
  • NP_001356717.1:p.Thr1746Asn
  • NP_055006.1:p.Thr1787Asn
  • LRG_1389t1:c.5360C>A
  • LRG_1389t2:c.5360C>A
  • LRG_1389:g.221889C>A
  • LRG_1389p1:p.Thr1787Asn
  • LRG_1389p2:p.Thr1787Asn
  • NC_000012.11:g.52200630C>A
  • NM_014191.2:c.5360C>A
  • NM_014191.3:c.5360C>A
Protein change:
T1746N
Links:
dbSNP: rs1131691830
NCBI 1000 Genomes Browser:
rs1131691830
Molecular consequence:
  • NM_001177984.3:c.5237C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330260.2:c.5360C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369788.1:c.5237C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014191.4:c.5360C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000582955GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(May 1, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000582955.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis indicates that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This substitution is predicted to be within the C-terminal cytoplasmic domain; This variant is associated with the following publications: (PMID: 34979445, 36198807)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024