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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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000615368Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Uncertain significance
(Aug 26, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024