U.S. flag

An official website of the United States government

NM_001037.5(SCN1B):c.590+1G>A AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 19, 2017
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:
RCV000497626.1

Allele description [Variation Report for NM_001037.5(SCN1B):c.590+1G>A]

NM_001037.5(SCN1B):c.590+1G>A

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.590+1G>A
HGVS:
  • NC_000019.10:g.35039259G>A
  • NG_013359.1:g.13572G>A
  • NM_001037.5:c.590+1G>AMANE SELECT
  • NM_001321605.2:c.491+1G>A
  • LRG_420t1:c.590+1G>A
  • LRG_420:g.13572G>A
  • NC_000019.9:g.35530163G>A
  • NM_001037.4:c.590+1G>A
Links:
dbSNP: rs112767703
NCBI 1000 Genomes Browser:
rs112767703
Molecular consequence:
  • NM_001037.5:c.590+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001321605.2:c.491+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000590542GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Jun 19, 2017) 		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, SCV000590542.2

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

Description

The c.590+1G>A variant in the SCN1B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 4. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.590+1G>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.590+1G>A as a likely pathogenic variant.

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

Last Updated: Feb 28, 2024