NM_001165963.4(SCN1A):c.3637C>G (p.Arg1213Gly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 11, 2019
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:: RCV001763450.2

Allele description [Variation Report for NM_001165963.4(SCN1A):c.3637C>G (p.Arg1213Gly)]

NM_001165963.4(SCN1A):c.3637C>G (p.Arg1213Gly)

Genes:

SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
LOC102724058:uncharacterized LOC102724058 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

Preferred name:

NM_001165963.4(SCN1A):c.3637C>G (p.Arg1213Gly)

HGVS:

NC_000002.12:g.166013812G>C
NG_011906.1:g.64828C>G
NM_001165963.4:c.3637C>GMANE SELECT
NM_001165964.3:c.3553C>G
NM_001202435.3:c.3637C>G
NM_001353948.2:c.3637C>G
NM_001353949.2:c.3604C>G
NM_001353950.2:c.3604C>G
NM_001353951.2:c.3604C>G
NM_001353952.2:c.3604C>G
NM_001353954.2:c.3601C>G
NM_001353955.2:c.3601C>G
NM_001353957.2:c.3553C>G
NM_001353958.2:c.3553C>G
NM_001353960.2:c.3550C>G
NM_001353961.2:c.1195C>G
NM_006920.6:c.3604C>G
NP_001159435.1:p.Arg1213Gly
NP_001159436.1:p.Arg1185Gly
NP_001189364.1:p.Arg1213Gly
NP_001340877.1:p.Arg1213Gly
NP_001340878.1:p.Arg1202Gly
NP_001340879.1:p.Arg1202Gly
NP_001340880.1:p.Arg1202Gly
NP_001340881.1:p.Arg1202Gly
NP_001340883.1:p.Arg1201Gly
NP_001340884.1:p.Arg1201Gly
NP_001340886.1:p.Arg1185Gly
NP_001340887.1:p.Arg1185Gly
NP_001340889.1:p.Arg1184Gly
NP_001340890.1:p.Arg399Gly
NP_008851.3:p.Arg1202Gly
LRG_8:g.64828C>G
NC_000002.11:g.166870322G>C
NM_001165963.1:c.3637C>G
NR_148667.2:n.3990C>G

Protein change:

R1184G

Links:

dbSNP: rs794726710

NCBI 1000 Genomes Browser:

rs794726710

Molecular consequence:

NM_001165963.4:c.3637C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001165964.3:c.3553C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001202435.3:c.3637C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353948.2:c.3637C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353949.2:c.3604C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353950.2:c.3604C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353951.2:c.3604C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353952.2:c.3604C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353954.2:c.3601C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353955.2:c.3601C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353957.2:c.3553C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353958.2:c.3553C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353960.2:c.3550C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353961.2:c.1195C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006920.6:c.3604C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_148667.2:n.3990C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001990894	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Apr 11, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001990894

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Apr 11, 2019)

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, SCV001990894.2

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

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This substitution is predicted to be within the cytoplasmic loop between the second and third homologous domains

#	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: Dec 24, 2023

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