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NM_001182.5(ALDH7A1):c.1281G>T (p.Glu427Asp) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 19, 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:
RCV000186763.1

Allele description

NM_001182.5(ALDH7A1):c.1281G>T (p.Glu427Asp)

Gene:
ALDH7A1:aldehyde dehydrogenase 7 family member A1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q23.2
Genomic location:
Preferred name:
NM_001182.5(ALDH7A1):c.1281G>T (p.Glu427Asp)
Other names:
p.E427D:GAG>GAT
HGVS:
  • NC_000005.10:g.126552057C>A
  • NG_008600.2:g.48334G>T
  • NM_001182.5:c.1281G>TMANE SELECT
  • NM_001201377.2:c.1197G>T
  • NM_001202404.2:c.1089G>T
  • NP_001173.2:p.Glu427Asp
  • NP_001188306.1:p.Glu399Asp
  • NP_001189333.2:p.Glu363Asp
  • NC_000005.9:g.125887749C>A
  • NM_001182.4:c.1281G>T
Protein change:
E363D
Links:
dbSNP: rs796052271
NCBI 1000 Genomes Browser:
rs796052271
Molecular consequence:
  • NM_001182.5:c.1281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001201377.2:c.1197G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202404.2:c.1089G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000240331GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Nov 19, 2014) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000240331.11

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

Description

p.Glu427Asp (GAG>GAT): c.1281 G>T in exon 14 of the ALDH7A1 gene (NM_001182.4). The E427D mutation in the ALDH7A1 gene has been previously reported (using alternative nomenclature of E399D) in an individual with pyridoxine dependent epilepsy and elevated pipecolic acid who did not have a second ALDH7A1 mutation on the other chromosome (Bennett et al., 2009). In addition, different amino acid substitutions at this position (E427Q and E427G) have been reported in several patients with pyridoxine dependent epilepsy who had a second ALDH7A1 mutation on the other chromosome (Mills et al., 2006; Schmitt et al., 2010). E427D was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E427D mutation is a non-conservative amino acid substitution that alters a highly conserved residue in the protein. Therefore, E427D is interpreted to be a pathogenic mutation. The variant is found in EPILEPSY panel(s).

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

Last Updated: Feb 20, 2024