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NM_001165963.4(SCN1A):c.4744G>C (p.Val1582Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 8, 2018
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:
RCV000188973.2

Allele description [Variation Report for NM_001165963.4(SCN1A):c.4744G>C (p.Val1582Leu)]

NM_001165963.4(SCN1A):c.4744G>C (p.Val1582Leu)

Genes:
SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
LOC102724058:uncharacterized LOC102724058 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001165963.4(SCN1A):c.4744G>C (p.Val1582Leu)
Other names:
p.V1582L:GTG>CTG
HGVS:
  • NC_000002.12:g.165994254C>G
  • NG_011906.1:g.84386G>C
  • NM_001165963.4:c.4744G>CMANE SELECT
  • NM_001165964.3:c.4660G>C
  • NM_001202435.3:c.4744G>C
  • NM_001353948.2:c.4744G>C
  • NM_001353949.2:c.4711G>C
  • NM_001353950.2:c.4711G>C
  • NM_001353951.2:c.4711G>C
  • NM_001353952.2:c.4711G>C
  • NM_001353954.2:c.4708G>C
  • NM_001353955.2:c.4708G>C
  • NM_001353957.2:c.4660G>C
  • NM_001353958.2:c.4660G>C
  • NM_001353960.2:c.4657G>C
  • NM_001353961.2:c.2302G>C
  • NM_006920.6:c.4711G>C
  • NP_001159435.1:p.Val1582Leu
  • NP_001159436.1:p.Val1554Leu
  • NP_001189364.1:p.Val1582Leu
  • NP_001340877.1:p.Val1582Leu
  • NP_001340878.1:p.Val1571Leu
  • NP_001340879.1:p.Val1571Leu
  • NP_001340880.1:p.Val1571Leu
  • NP_001340881.1:p.Val1571Leu
  • NP_001340883.1:p.Val1570Leu
  • NP_001340884.1:p.Val1570Leu
  • NP_001340886.1:p.Val1554Leu
  • NP_001340887.1:p.Val1554Leu
  • NP_001340889.1:p.Val1553Leu
  • NP_001340890.1:p.Val768Leu
  • NP_008851.3:p.Val1571Leu
  • LRG_8:g.84386G>C
  • NC_000002.11:g.166850764C>G
  • NM_001165963.1:c.4744G>C
  • NM_001165964.1:c.4660G>C
  • NR_148667.2:n.5161G>C
Protein change:
V1553L
Links:
dbSNP: rs779090130
NCBI 1000 Genomes Browser:
rs779090130
Molecular consequence:
  • NM_001165963.4:c.4744G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.4660G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.4744G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.4744G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.4711G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.4711G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.4711G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.4711G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.4708G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.4708G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.4660G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.4660G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.4657G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353961.2:c.2302G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.4711G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.5161G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000242604GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Aug 8, 2018) 		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, SCV000242604.11

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

Description

p.Val1582Leu (GTG>CTG): c.4744 G>C in exon 25 of the SCN1A gene (NM_001165963.1) The Val1582Leu missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Val1582Leu is a conservative amino acid substitution as both Valine and Leucine are uncharged, non-polar residues. The variant occurs in the 2nd segment of the 4th transmembrane domain at a position that is not conserved across species. In silico algorithms are not consistent in their prediction of whether or not Val1582Leu is possibly damaging to the structure/function of the SCN1A protein. Therefore, based on the currently available information, it is unclear whether Val1582Leu is a disease-causing mutation or a rare benign variant.The variant is found in INFANT-EPI panel(s).

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

Last Updated: Apr 23, 2022