NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs) AND 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

Clinical significance:Pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000494711.1

Allele description [Variation Report for NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs)]

NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs)

Gene:
SERAC1:serine active site containing 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6q25.3
Genomic location:
Preferred name:
NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs)
HGVS:
  • NC_000006.12:g.158114829_158114832dup
  • NG_032889.1:g.58451_58454dup
  • NM_032861.4:c.1643_1646dupMANE SELECT
  • NP_116250.3:p.Leu550fs
  • NC_000006.11:g.158535861_158535864dup
  • NM_032861.3:c.1643_1646dupATCT
  • NR_073096.2:n.1558_1561dup
Protein change:
L550fs
Links:
dbSNP: rs761964407
NCBI 1000 Genomes Browser:
rs761964407
Molecular consequence:
  • NM_032861.4:c.1643_1646dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_073096.2:n.1558_1561dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000537857Sandor Lifesciences Pvt Ltdno assertion criteria providedPathogenicgermlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Dravidiangermlineyes1not providednot providednot providednot providedresearch

Details of each submission

From Sandor Lifesciences Pvt Ltd, SCV000537857.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Dravidian1not providednot providedresearchnot provided

Description

Observed in a female patient who developed severe respiratory distress due to severe metabolic acidosis. Serum lactate, transaminases and serum bilirubin elevated. Subsequent follow up at 15 months of age revealed gross psychomotor delay with dystonia with urine organic acid analysis showing 7-fold increase in methylglutaconic acid and 2-fold increase in 3-methyl glutaric acid levels. The patient was re-evaluated at 7 years of age. At this age, the patient manifested seizures, generalized dystonia, failure to thrive, swallowing difficulty, spasticity and flexion contractures.

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

Last Updated: Oct 7, 2021

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