NM_001165963.4(SCN1A):c.1066A>G (p.Arg356Gly) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 28, 2020
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:: RCV001257271.2

Allele description [Variation Report for NM_001165963.4(SCN1A):c.1066A>G (p.Arg356Gly)]

NM_001165963.4(SCN1A):c.1066A>G (p.Arg356Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

Preferred name:

NM_001165963.4(SCN1A):c.1066A>G (p.Arg356Gly)

HGVS:

NC_000002.12:g.166047731T>C
NG_011906.1:g.30909A>G
NM_001165963.4:c.1066A>GMANE SELECT
NM_001165964.3:c.1066A>G
NM_001202435.3:c.1066A>G
NM_001353948.2:c.1066A>G
NM_001353949.2:c.1066A>G
NM_001353950.2:c.1066A>G
NM_001353951.2:c.1066A>G
NM_001353952.2:c.1066A>G
NM_001353954.2:c.1066A>G
NM_001353955.2:c.1066A>G
NM_001353957.2:c.1066A>G
NM_001353958.2:c.1066A>G
NM_001353960.2:c.1066A>G
NM_001353961.2:c.-1360A>G
NM_006920.6:c.1066A>G
NP_001159435.1:p.Arg356Gly
NP_001159436.1:p.Arg356Gly
NP_001189364.1:p.Arg356Gly
NP_001340877.1:p.Arg356Gly
NP_001340878.1:p.Arg356Gly
NP_001340879.1:p.Arg356Gly
NP_001340880.1:p.Arg356Gly
NP_001340881.1:p.Arg356Gly
NP_001340883.1:p.Arg356Gly
NP_001340884.1:p.Arg356Gly
NP_001340886.1:p.Arg356Gly
NP_001340887.1:p.Arg356Gly
NP_001340889.1:p.Arg356Gly
NP_008851.3:p.Arg356Gly
LRG_8t1:c.1066A>G
LRG_8:g.30909A>G
NC_000002.11:g.166904241T>C
NM_001165963.1:c.1066A>G
NM_006920.4:c.1066A>G
NR_148667.2:n.1452A>G
P35498:p.Arg356Gly

Protein change:

R356G

Links:

UniProtKB: P35498#VAR_064299; UniProtKB/Swiss-Prot: VAR_064299; dbSNP: rs121917920

NCBI 1000 Genomes Browser:

rs121917920

Molecular consequence:

NM_001353961.2:c.-1360A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001165963.4:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001165964.3:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001202435.3:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353948.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353949.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353950.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353951.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353952.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353954.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353955.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353957.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353958.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353960.2:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006920.6:c.1066A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_148667.2:n.1452A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Anterior creases of earlobe
Synonyms:: Earlobe crease
Identifiers:: MedGen: C1851897; OMIM: 128950; Human Phenotype Ontology: HP:0009908

Name:: Camptodactyly of 2nd-5th fingers
Identifiers:: MedGen: C1859368; Human Phenotype Ontology: HP:0001215

Name:: Congenital contracture
Synonyms:: Congenital contractures
Identifiers:: MONDO: MONDO:0022823; MedGen: C0332878; Human Phenotype Ontology: HP:0002803

Name:: Hip contracture
Identifiers:: MedGen: C0409354; Human Phenotype Ontology: HP:0003273

Name:: Knee flexion contracture
Identifiers:: MedGen: C0409355; Human Phenotype Ontology: HP:0006380

Name:: Clinodactyly
Identifiers:: MedGen: C4551485; Human Phenotype Ontology: HP:0030084

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001433815	Centre for Mendelian Genomics, University Medical Centre Ljubljana	criteria provided, single submitter (ACMG guidelines, Richards 2015)	Uncertain significance (Jan 28, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001433815

Centre for Mendelian Genomics, University Medical Centre Ljubljana

criteria provided, single submitter

(ACMG guidelines, Richards 2015)

Uncertain significance
(Jan 28, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; et al.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PubMed [citation]

PMID:: 30311386
PMCID:: PMC6188673

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV001433815.1

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

Description

This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PM6. This variant was detected in heterozygous state.

#	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: Aug 5, 2023

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