NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) AND 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000106307.4

Allele description [Variation Report for NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)]

NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)

Gene:
SERAC1:serine active site containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q25.3
Genomic location:
Preferred name:
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)
HGVS:
  • NC_000006.12:g.158150516G>A
  • NG_032889.1:g.22765C>T
  • NM_032861.4:c.202C>TMANE SELECT
  • NP_116250.3:p.Arg68Ter
  • NC_000006.11:g.158571548G>A
  • NM_032861.3:c.202C>T
  • NR_073096.2:n.326C>T
Protein change:
R68*; ARG68TER
Links:
OMIM: 614725.0006; dbSNP: rs529232938
NCBI 1000 Genomes Browser:
rs529232938
Molecular consequence:
  • NR_073096.2:n.326C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_032861.4:c.202C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
3

Condition(s)

Name:
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)
Synonyms:
3-METHYLGLUTACONIC ACIDURIA, TYPE VI; 3-METHYLGLUTACONIC ACIDURIA WITH DYSTONIA-DEAFNESS, HEPATOPATHY, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL syndrome
Identifiers:
MONDO: MONDO:0013875; MedGen: C3553597; Orphanet: 352328; OMIM: 614739

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000143766OMIMno assertion criteria providedPathogenic
(Sep 1, 2013)
germlineliterature only

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

SCV001438949Pathology and Clinical Laboratory Medicine,King Fahad Medical Citycriteria provided, single submitter
Likely pathogenicgermlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
Arabgermlineyes3not providednot providednot providednot providedclinical testing

Citations

PubMed

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.

Tort F, García-Silva MT, Ferrer-Cortès X, Navarro-Sastre A, Garcia-Villoria J, Coll MJ, Vidal E, Jiménez-Almazán J, Dopazo J, Briones P, Elpeleg O, Ribes A.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):73-7. doi: 10.1016/j.ymgme.2013.04.021. Epub 2013 May 3.

PubMed [citation]
PMID:
23707711

Details of each submission

From OMIM, SCV000143766.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL; 614739), Tort et al. (2013) identified a homozygous c.202C-T transition in the SERAC1 gene, resulting in an arg68-to-ter (R68X) substitution. Western blot of patient cells showed no detectable SERAC1 protein. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family.

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

From Pathology and Clinical Laboratory Medicine,King Fahad Medical City, SCV001438949.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Arab3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Oct 7, 2021

Support Center