NM_006514.4(SCN10A):c.3020A>G (p.Asp1007Gly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 31, 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:: RCV003443059.1

Allele description [Variation Report for NM_006514.4(SCN10A):c.3020A>G (p.Asp1007Gly)]

NM_006514.4(SCN10A):c.3020A>G (p.Asp1007Gly)

Genes:

LOC110121288:VISTA enhancer hs2268 [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.3020A>G (p.Asp1007Gly)

HGVS:

NC_000003.12:g.38726673T>C
NG_031891.3:g.94544A>G
NG_053903.1:g.4638T>C
NM_001293306.2:c.3020A>G
NM_001293307.2:c.2726A>G
NM_006514.4:c.3020A>GMANE SELECT
NP_001280235.2:p.Asp1007Gly
NP_001280236.2:p.Asp909Gly
NP_006505.4:p.Asp1007Gly
NC_000003.11:g.38768164T>C
NG_031891.2:g.72338A>G
NM_006514.2:c.3020A>G

Protein change:

D1007G

Molecular consequence:

NM_001293306.2:c.3020A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293307.2:c.2726A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006514.4:c.3020A>G - missense variant - [Sequence Ontology: SO:0001583]

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

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004170541	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Oct 31, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004170541

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Oct 31, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV004170541.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Identified in a patient with Brugada syndrome in published literature (Monasky et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31292628)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

ClinVar

Relating variation to medicine