U.S. flag

An official website of the United States government

NM_000454.5(SOD1):c.290A>T (p.Asp97Val) AND Amyotrophic lateral sclerosis type 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 20, 2014
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:
RCV000853537.2

Allele description [Variation Report for NM_000454.5(SOD1):c.290A>T (p.Asp97Val)]

NM_000454.5(SOD1):c.290A>T (p.Asp97Val)

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.290A>T (p.Asp97Val)
HGVS:
  • NC_000021.9:g.31667308A>T
  • NG_008689.1:g.12687A>T
  • NM_000454.5:c.290A>TMANE SELECT
  • NP_000445.1:p.Asp97Val
  • NP_000445.1:p.Asp97Val
  • LRG_652t1:c.290A>T
  • LRG_652:g.12687A>T
  • LRG_652p1:p.Asp97Val
  • NC_000021.8:g.33039621A>T
  • NM_000454.4:c.290A>T
Protein change:
D97V
Links:
dbSNP: rs1555836803
NCBI 1000 Genomes Browser:
rs1555836803
Molecular consequence:
  • NM_000454.5:c.290A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Amyotrophic lateral sclerosis type 1 (ALS1)
Synonyms:
AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL
Identifiers:
MONDO: MONDO:0007103; MedGen: C1862939; Orphanet: 803; OMIM: 105400

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000994920Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 20, 2014) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownno1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center, SCV000994920.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

It is noteworthy that compound heterozygous variants D90A and D96N (HGVS: new numbering, D97N)located in the same protein domain have been previously described in a recessive ALS family (Hand et al. Ann Neurol 2001:49;267-271) suggesting that the D97V variant is likely pathogenic and associated with autosomal recessive ALS. The D97V variant was detected through WES analysis in the blood leukocytes of a healthy 73-year-old male control subject with no family history of ALS (four older siblings with no known neuromuscular disorders).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnonot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 8, 2022