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NM_000454.5(SOD1):c.95T>C (p.Val32Ala) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 13, 2022
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:
RCV002291718.2

Allele description [Variation Report for NM_000454.5(SOD1):c.95T>C (p.Val32Ala)]

NM_000454.5(SOD1):c.95T>C (p.Val32Ala)

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.95T>C (p.Val32Ala)
HGVS:
  • NC_000021.9:g.31663812T>C
  • NG_008689.1:g.9191T>C
  • NM_000454.5:c.95T>CMANE SELECT
  • NP_000445.1:p.Val32Ala
  • LRG_652t1:c.95T>C
  • LRG_652:g.9191T>C
  • NC_000021.8:g.33036125T>C
  • NM_000454.4:c.95T>C
Protein change:
V32A
Links:
dbSNP: rs1428716759
NCBI 1000 Genomes Browser:
rs1428716759
Molecular consequence:
  • NM_000454.5:c.95T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002584265GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Oct 13, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV002584265.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Observed in several unrelated individuals with ALS, but familial segregation information and additional clinical information was not provided (Dangoumau et al., 2014; Tunca et al., 2020); Published functional studies suggest this variant results in formation of aggregates, however additional studies are needed to validate the functional effect of this variant in vivo (Dangoumau et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25798606, 28680046, 24611504, 34426522, 33670299, 29709651, 26605782, 33655618, 32579787, 35328090, 23954173)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 4, 2023