NM_000382.3(ALDH3A2):c.760C>T (p.Gln254Ter) AND Sjögren-Larsson syndrome

Clinical significance:Likely pathogenic (Last evaluated: Oct 21, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000382.3(ALDH3A2):c.760C>T (p.Gln254Ter)]

NM_000382.3(ALDH3A2):c.760C>T (p.Gln254Ter)

ALDH3A2:aldehyde dehydrogenase 3 family member A2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000382.3(ALDH3A2):c.760C>T (p.Gln254Ter)
  • NC_000017.11:g.19657824C>T
  • NG_007095.2:g.14074C>T
  • NM_000382.3:c.760C>TMANE SELECT
  • NM_001031806.2:c.760C>T
  • NM_001369136.1:c.760C>T
  • NM_001369137.2:c.760C>T
  • NM_001369138.2:c.760C>T
  • NM_001369139.1:c.760C>T
  • NM_001369146.2:c.760C>T
  • NM_001369148.2:c.181C>T
  • NP_000373.1:p.Gln254Ter
  • NP_001026976.1:p.Gln254Ter
  • NP_001356065.1:p.Gln254Ter
  • NP_001356066.1:p.Gln254Ter
  • NP_001356067.1:p.Gln254Ter
  • NP_001356068.1:p.Gln254Ter
  • NP_001356075.1:p.Gln254Ter
  • NP_001356077.1:p.Gln61Ter
  • NC_000017.10:g.19561137C>T
Protein change:
Molecular consequence:
  • NM_000382.3:c.760C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001031806.2:c.760C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369136.1:c.760C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369137.2:c.760C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369138.2:c.760C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369139.1:c.760C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369146.2:c.760C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369148.2:c.181C>T - nonsense - [Sequence Ontology: SO:0001587]


Sjögren-Larsson syndrome (SLS)
FATTY ALCOHOL:NAD+ OXIDOREDUCTASE DEFICIENCY; Fatty aldehyde dehydrogenase deficiency; FADH deficiency; See all synonyms [MedGen]
MONDO: MONDO:0010031; MedGen: C0037231; Orphanet: 816; OMIM: 270200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001441907Myriad Women's Health, Inc.no assertion criteria provided
Likely pathogenic
(Oct 21, 2019)
unknownclinical testing

Citation Link


NM_000382.2(ALDH3A2):c.760C>T(Q254*) is expected to be pathogenic in the context of Sjogren-Larsson syndrome. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ALDH3A2, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.


Summary from all submissions

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

Details of each submission

From Myriad Women's Health, Inc., SCV001441907.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 12, 2020

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