NM_001080.3(ALDH5A1):c.559C>G (p.Arg187Gly) AND Succinate-semialdehyde dehydrogenase deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 8, 2021
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:: RCV002510504.3

Allele description [Variation Report for NM_001080.3(ALDH5A1):c.559C>G (p.Arg187Gly)]

NM_001080.3(ALDH5A1):c.559C>G (p.Arg187Gly)

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.559C>G (p.Arg187Gly)

HGVS:

NC_000006.12:g.24503383C>G
NG_008161.1:g.13415C>G
NM_001080.3:c.559C>GMANE SELECT
NM_001368954.1:c.559C>G
NM_170740.1:c.559C>G
NP_001071.1:p.Arg187Gly
NP_001355883.1:p.Arg187Gly
NP_733936.1:p.Arg187Gly
NC_000006.11:g.24503611C>G

Protein change:

R187G

Molecular consequence:

NM_001080.3:c.559C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001368954.1:c.559C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_170740.1:c.559C>G - 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
SCV002819975	Elsea Laboratory, Baylor College of Medicine	criteria provided, single submitter (Martin et al. (J Child Neurol. 2021))	Pathogenic (Mar 8, 2021)	germline	curation	PubMed (3) [See all records that cite these PMIDs] 33203024, 32402538, 34882073

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002819975

Elsea Laboratory, Baylor College of Medicine

criteria provided, single submitter

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

Pathogenic
(Mar 8, 2021)

germline

curation

PubMed (3)
[See all records that cite these PMIDs]

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

Citations

PubMed

Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1.

Brennenstuhl H, Didiasova M, Assmann B, Bertoldi M, Molla G, Jung-Klawitter S, Kuseyri Hübschmann O, Schröter J, Opladen T, Tikkanen R.

Int J Mol Sci. 2020 Nov 13;21(22). doi:pii: E8578. 10.3390/ijms21228578.

PubMed [citation]

PMID:: 33203024
PMCID:: PMC7696157

Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.

Pop A, Smith DEC, Kirby T, Walters D, Gibson KM, Mahmoudi S, van Dooren SJM, Kanhai WA, Fernandez-Ojeda MR, Wever EJM, Koster J, Waterham HR, Grob B, Roos B, Wamelink MMC, Chen J, Natesan S, Salomons GS.

Mol Genet Metab. 2020 Jul;130(3):172-178. doi: 10.1016/j.ymgme.2020.04.004. Epub 2020 May 4.

PubMed [citation]

PMID:: 32402538

See all PubMed Citations (3)

Details of each submission

From Elsea Laboratory, Baylor College of Medicine, SCV002819975.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (3)

#	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

Last Updated: May 7, 2024

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