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NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 15, 2020
Accession:
VCV000265459.6
Variation ID:
265459
Description:
single nucleotide variant
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NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn)

Allele ID
260161
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p11.2
Genomic location
17: 19657797 (GRCh38) GRCh38 UCSC
17: 19561110 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.19657797G>A
NC_000017.10:g.19561110G>A
NM_000382.3:c.733G>A MANE Select NP_000373.1:p.Asp245Asn missense
... more HGVS
Protein change
D245N, D52N
Other names
-
Canonical SPDI
NC_000017.11:19657796:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA8442901
UniProtKB: P51648#VAR_002252
dbSNP: rs72547568
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Jul 15, 2020 RCV000255515.4
Pathogenic 2 criteria provided, single submitter - RCV000663418.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ALDH3A2 - - GRCh38
GRCh37
313 427

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(-)
criteria provided, single submitter
Method: research
Sjögren-Larsson syndrome
(Autosomal recessive inheritance)
Allele origin: germline
Broad Institute Rare Disease Group, Broad Institute
Study: Broad Institute Center for Mendelian Genomics (CMG)
Accession: SCV000786717.1
Submitted: (Jun 27, 2018)
Evidence details
Comment:
The homozygous p.Asp245Asn variant was identified by our study in two individuals with Sjogren-Larsson Syndrome. The p.Asp245Asn variant is believed to be pathogenic based on … (more)
Pathogenic
(May 31, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000322393.7
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The D245N pathogenic variant in the ALDH3A2 gene has been reported previously in the homozygous state, or as part of a complex allele, in multiple … (more)
Pathogenic
(Jul 15, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000949868.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces aspartic acid with asparagine at codon 245 of the ALDH3A2 protein (p.Asp245Asn). The aspartic acid residue is highly conserved and there … (more)
Likely pathogenic
(Apr 09, 2019)
no assertion criteria provided
Method: clinical testing
Sjögren-Larsson syndrome
Allele origin: unknown
Counsyl
Accession: SCV000789733.2
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (9)

Functional evidence

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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

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Title Author Journal Year Link
Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran. Kariminejad A European journal of medical genetics 2018 PMID: 29183715
A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase. Keller MA Nature communications 2014 PMID: 25047030
Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort. Sarret C Journal of the neurological sciences 2012 PMID: 21872273
Characterisation of recombinant human fatty aldehyde dehydrogenase: implications for Sjögren-Larsson syndrome. Lloyd MD Journal of enzyme inhibition and medicinal chemistry 2007 PMID: 18035827
Understanding mutations and protein stability through tripeptides. Anishetty S FEBS letters 2006 PMID: 16546179
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome. Willemsen MA Brain : a journal of neurology 2001 PMID: 11408337
RNA-based mutation screening in German families with Sjögren-Larsson syndrome. Kraus C European journal of human genetics : EJHG 2000 PMID: 10854114
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

Text-mined citations for rs72547568...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 14, 2021