NM_001080.3(ALDH5A1):c.1274T>C (p.Leu425Pro) AND Succinate-semialdehyde dehydrogenase deficiency

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Jun 24, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002510535.4

Allele description [Variation Report for NM_001080.3(ALDH5A1):c.1274T>C (p.Leu425Pro)]

NM_001080.3(ALDH5A1):c.1274T>C (p.Leu425Pro)

Gene:

ALDH5A1:aldehyde dehydrogenase 5 family member A1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p22.3

Genomic location:

Preferred name:

NM_001080.3(ALDH5A1):c.1274T>C (p.Leu425Pro)

HGVS:

NC_000006.12:g.24528097T>C
NG_008161.1:g.38129T>C
NM_001080.3:c.1274T>CMANE SELECT
NM_001368954.1:c.1130T>C
NM_170740.1:c.1313T>C
NP_001071.1:p.Leu425Pro
NP_001355883.1:p.Leu377Pro
NP_733936.1:p.Leu438Pro
NC_000006.11:g.24528325T>C

Protein change:

L377P

Molecular consequence:

NM_001080.3:c.1274T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001368954.1:c.1130T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_170740.1:c.1313T>C - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

effect on protein interaction site [Variation Ontology: 0118]

Condition(s)

Name:: Succinate-semialdehyde dehydrogenase deficiency (SSADHD)
Synonyms:: 4-hydroxybutyric aciduria; Gamma-hydroxybutyricaciduria
Identifiers:: MONDO: MONDO:0010083; MedGen: C0268631; Orphanet: 22; OMIM: 271980

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002820028	Elsea Laboratory, Baylor College of Medicine	criteria provided, single submitter (Martin et al. (J Child Neurol. 2021))	Pathogenic (Mar 8, 2021)	germline	curation	PubMed (4) [See all records that cite these PMIDs] 26220405, 29895405, 33203024, 34882073
SCV003935168	Laboratory of Metabolic Disorders, Peking University First Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 24, 2023)	inherited	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002820028

Elsea Laboratory, Baylor College of Medicine

criteria provided, single submitter

(Martin et al. (J Child Neurol. 2021))

Pathogenic
(Mar 8, 2021)

germline

curation

PubMed (4)
[See all records that cite these PMIDs]

SCV003935168

Laboratory of Metabolic Disorders, Peking University First Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 24, 2023)

inherited

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	curation
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses.

Li X, Ding Y, Liu Y, Zhang Y, Song J, Wang Q, Li M, Qin Y, Huang S, Yang Y.

Gene. 2015 Dec 10;574(1):41-7. doi: 10.1016/j.gene.2015.07.078. Epub 2015 Jul 26. Erratum in: Gene. 2016 Apr 15;580(2):184. Gene. 2016 Apr 15;580(2):184. doi: 10.1016/j.gene.2015.12.062.

PubMed [citation]

PMID:: 26220405

Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability.

Menduti G, Biamino E, Vittorini R, Vesco S, Puccinelli MP, Porta F, Capo C, Leo S, Ciminelli BM, Iacovelli F, Spada M, Falconi M, Malaspina P, Rossi L.

Mol Genet Metab. 2018 Jul;124(3):210-215. doi: 10.1016/j.ymgme.2018.05.006. Epub 2018 Jun 2.

PubMed [citation]

PMID:: 29895405

See all PubMed Citations (5)

Details of each submission

From Elsea Laboratory, Baylor College of Medicine, SCV002820028.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (4)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Laboratory of Metabolic Disorders, Peking University First Hospital, SCV003935168.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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