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NM_001037.5(SCN1B):c.590C>T (p.Ala197Val) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 27, 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:
RCV002354422.9

Allele description [Variation Report for NM_001037.5(SCN1B):c.590C>T (p.Ala197Val)]

NM_001037.5(SCN1B):c.590C>T (p.Ala197Val)

Gene:
SCN1B:sodium voltage-gated channel beta subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.11
Genomic location:
Preferred name:
NM_001037.5(SCN1B):c.590C>T (p.Ala197Val)
Other names:
p.A197V:GCC>GTC
HGVS:
  • NC_000019.10:g.35039258C>T
  • NG_013359.1:g.13571C>T
  • NM_001037.5:c.590C>TMANE SELECT
  • NM_001321605.2:c.491C>T
  • NP_001028.1:p.Ala197Val
  • NP_001308534.1:p.Ala164Val
  • LRG_420t1:c.590C>T
  • LRG_420:g.13571C>T
  • LRG_420p1:p.Ala197Val
  • NC_000019.9:g.35530162C>T
  • NM_001037.4:c.590C>T
  • NM_199037.2:c.*5160C>T
Protein change:
A164V
Links:
dbSNP: rs554201948
NCBI 1000 Genomes Browser:
rs554201948
Molecular consequence:
  • NM_001037.5:c.590C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321605.2:c.491C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002653272Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Oct 27, 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, SCV002653272.2

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

Description

The p.A197V variant (also known as c.590C>T), located in coding exon 4 of the SCN1B gene, results from a C to T substitution at nucleotide position 590. The amino acid change results in alanine to valine at codon 197, an amino acid with similar properties. However, this change occurs in the last base pair of coding exon 4, which makes it likely to have some effect on normal mRNA splicing. This nucleotide position is highly conserved in available vertebrate species. This amino acid position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice donor site. In addition, as a missense substitution this is predicted to be inconclusive by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024