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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

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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

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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