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NM_001330260.2(SCN8A):c.5566C>G (p.Leu1856Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 21, 2023
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:
RCV004454948.1

Allele description [Variation Report for NM_001330260.2(SCN8A):c.5566C>G (p.Leu1856Val)]

NM_001330260.2(SCN8A):c.5566C>G (p.Leu1856Val)

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.5566C>G (p.Leu1856Val)
HGVS:
  • NC_000012.12:g.51807052C>G
  • NG_021180.3:g.222095C>G
  • NM_001177984.3:c.5443C>G
  • NM_001330260.2:c.5566C>GMANE SELECT
  • NM_001369788.1:c.5443C>G
  • NM_014191.4:c.5566C>G
  • NP_001171455.1:p.Leu1815Val
  • NP_001317189.1:p.Leu1856Val
  • NP_001356717.1:p.Leu1815Val
  • NP_055006.1:p.Leu1856Val
  • LRG_1389t1:c.5566C>G
  • LRG_1389t2:c.5566C>G
  • LRG_1389:g.222095C>G
  • LRG_1389p1:p.Leu1856Val
  • LRG_1389p2:p.Leu1856Val
  • NC_000012.11:g.52200836C>G
  • NM_014191.2:c.5566C>G
Protein change:
L1815V
Molecular consequence:
  • NM_001177984.3:c.5443C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330260.2:c.5566C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369788.1:c.5443C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014191.4:c.5566C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004944577Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Dec 21, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004944577.1

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

Description

The c.5566C>G (p.L1856V) alteration is located in exon 27 (coding exon 26) of the SCN8A gene. This alteration results from a C to G substitution at nucleotide position 5566, causing the leucine (L) at amino acid position 1856 to be replaced by a valine (V). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. This missense alteration is located in a region that has a low rate of benign missense variation (Lek, 2016; Firth, 2009). This alteration is predicted to be deleterious by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024