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NM_006514.4(SCN10A):c.1747G>A (p.Asp583Asn) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 22, 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:
RCV002404881.3

Allele description [Variation Report for NM_006514.4(SCN10A):c.1747G>A (p.Asp583Asn)]

NM_006514.4(SCN10A):c.1747G>A (p.Asp583Asn)

Gene:
SCN10A:sodium voltage-gated channel alpha subunit 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_006514.4(SCN10A):c.1747G>A (p.Asp583Asn)
HGVS:
  • NC_000003.12:g.38752227C>T
  • NG_031891.2:g.46784G>A
  • NM_001293306.2:c.1747G>A
  • NM_001293307.2:c.1462-2043G>A
  • NM_006514.4:c.1747G>AMANE SELECT
  • NP_001280235.2:p.Asp583Asn
  • NP_006505.4:p.Asp583Asn
  • NC_000003.11:g.38793718C>T
  • NM_006514.2:c.1747G>A
Protein change:
D583N
Links:
dbSNP: rs910976049
NCBI 1000 Genomes Browser:
rs910976049
Molecular consequence:
  • NM_001293307.2:c.1462-2043G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001293306.2:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006514.4:c.1747G>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
SCV002711609Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 22, 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, SCV002711609.3

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

Description

The p.D583N variant (also known as c.1747G>A), located in coding exon 11 of the SCN10A gene, results from a G to A substitution at nucleotide position 1747. The aspartic acid at codon 583 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated 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: Sep 29, 2024