Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu)

Help
Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 28, 2020
Accession:
VCV000371221.3
Variation ID:
371221
Description:
single nucleotide variant
Help

NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu)

Allele ID
358405
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p11.2
Genomic location
17: 19663486 (GRCh38) GRCh38 UCSC
17: 19566799 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.19566799C>T
NC_000017.11:g.19663486C>T
NM_000382.3:c.1094C>T MANE Select NP_000373.1:p.Ser365Leu missense
... more HGVS
Protein change
S365L, S172L
Other names
-
Canonical SPDI
NC_000017.11:19663485:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16041815
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Aug 1, 2016 RCV000410901.1
Pathogenic 1 criteria provided, single submitter Mar 28, 2020 RCV001216194.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ALDH3A2 - - GRCh38
GRCh37
317 431

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 01, 2016)
criteria provided, single submitter
Method: clinical testing
Sjögren-Larsson syndrome
Allele origin: unknown
Counsyl
Accession: SCV000486749.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (5)
Pathogenic
(Mar 28, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001387976.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces serine with leucine at codon 365 of the ALDH3A2 protein (p.Ser365Leu). The serine residue is highly conserved and there is a … (more)

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects. Abdel-Hamid MS Journal of human genetics 2019 PMID: 31273323
A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase. Keller MA Nature communications 2014 PMID: 25047030
Monitoring of fatty aldehyde dehydrogenase by formation of pyrenedecanoic acid from pyrenedecanal. Keller MA Journal of lipid research 2010 PMID: 19965611
Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome. Didona B Journal of human genetics 2007 PMID: 17902024
Understanding mutations and protein stability through tripeptides. Anishetty S FEBS letters 2006 PMID: 16546179
The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. Rizzo WB American journal of human genetics 1999 PMID: 10577908
Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome. Sillén A Human mutation 1998 PMID: 9829906

Record last updated May 10, 2021