NM_000454.5(SOD1):c.355G>C (p.Val119Leu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 26, 2016
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:: RCV000517143.2

Allele description [Variation Report for NM_000454.5(SOD1):c.355G>C (p.Val119Leu)]

NM_000454.5(SOD1):c.355G>C (p.Val119Leu)

Gene:

SOD1:superoxide dismutase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.11

Genomic location:

Preferred name:

NM_000454.5(SOD1):c.355G>C (p.Val119Leu)

HGVS:

NC_000021.9:g.31667373G>C
NG_008689.1:g.12752G>C
NM_000454.5:c.355G>CMANE SELECT
NP_000445.1:p.Val119Leu
NP_000445.1:p.Val119Leu
LRG_652t1:c.355G>C
LRG_652:g.12752G>C
LRG_652p1:p.Val119Leu
NC_000021.8:g.33039686G>C
NM_000454.4:c.355G>C

Protein change:

V119L

Links:

dbSNP: rs1235629842

NCBI 1000 Genomes Browser:

rs1235629842

Molecular consequence:

NM_000454.5:c.355G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000615368	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Aug 26, 2016)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 23280792, 20577002, 14506936, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000615368

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Aug 26, 2016)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

A novel monoclonal antibody reveals a conformational alteration shared by amyotrophic lateral sclerosis-linked SOD1 mutants.

Fujisawa T, Homma K, Yamaguchi N, Kadowaki H, Tsuburaya N, Naguro I, Matsuzawa A, Takeda K, Takahashi Y, Goto J, Tsuji S, Nishitoh H, Ichijo H.

Ann Neurol. 2012 Nov;72(5):739-49. doi: 10.1002/ana.23668.

PubMed [citation]

PMID:: 23280792

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.

Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, Guillot-Noël L, Russaouen O, Bruneteau G, Pradat PF, Le Forestier N, Vandenberghe N, Danel-Brunaud V, Guy N, Thauvin-Robinet C, Lacomblez L, Couratier P, Hannequin D, Seilhean D, Le Ber I, Corcia P, Camu W, et al.

J Med Genet. 2010 Aug;47(8):554-60. doi: 10.1136/jmg.2010.077180. Epub 2010 Jun 24.

PubMed [citation]

PMID:: 20577002

See all PubMed Citations (4)

Details of each submission

From Athena Diagnostics, SCV000615368.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

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

Last Updated: May 7, 2024

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