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NM_001037.5(SCN1B):c.448G>A (p.Ala150Thr) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 10, 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:
RCV002331494.3

Allele description [Variation Report for NM_001037.5(SCN1B):c.448G>A (p.Ala150Thr)]

NM_001037.5(SCN1B):c.448G>A (p.Ala150Thr)

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.448G>A (p.Ala150Thr)
HGVS:
  • NC_000019.10:g.35033739G>A
  • NG_013359.1:g.8052G>A
  • NM_001037.5:c.448G>AMANE SELECT
  • NM_001321605.2:c.349G>A
  • NM_199037.5:c.448G>A
  • NP_001028.1:p.Ala150Thr
  • NP_001308534.1:p.Ala117Thr
  • NP_950238.1:p.Gly150Ser
  • LRG_420t1:c.448G>A
  • LRG_420:g.8052G>A
  • LRG_420p1:p.Ala150Thr
  • NC_000019.9:g.35524643G>A
  • NM_001037.4:c.448G>A
Protein change:
A117T
Links:
dbSNP: rs1034016541
NCBI 1000 Genomes Browser:
rs1034016541
Molecular consequence:
  • NM_001037.5:c.448G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321605.2:c.349G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199037.5:c.448G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002636745Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 10, 2024) 		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, SCV002636745.3

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

Description

The p.A150T variant (also known as c.448G>A), located in coding exon 3 of the SCN1B gene, results from a G to A substitution at nucleotide position 448. The amino acid change results in alanine to threonine at codon 150, an amino acid with similar properties. However, this change occurs in the last base pair of coding exon 3, which makes it likely to have some effect on normal mRNA splicing. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site. This amino acid position is highly conserved in available vertebrate species. In addition, as a missense substitution this is predicted to be deleterious 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: Oct 8, 2024