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NM_000382.3(ALDH3A2):c.1198G>A (p.Gly400Arg) AND Sjögren-Larsson syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 6, 2024
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:
RCV004689555.1

Allele description [Variation Report for NM_000382.3(ALDH3A2):c.1198G>A (p.Gly400Arg)]

NM_000382.3(ALDH3A2):c.1198G>A (p.Gly400Arg)

Gene:
ALDH3A2:aldehyde dehydrogenase 3 family member A2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_000382.3(ALDH3A2):c.1198G>A (p.Gly400Arg)
HGVS:
  • NC_000017.11:g.19665038G>A
  • NG_007095.2:g.21288G>A
  • NM_000382.3:c.1198G>AMANE SELECT
  • NM_001031806.2:c.1198G>A
  • NM_001369136.1:c.1198G>A
  • NM_001369137.2:c.1198G>A
  • NM_001369138.2:c.1198G>A
  • NM_001369139.1:c.1198G>A
  • NM_001369146.2:c.1198G>A
  • NM_001369148.2:c.619G>A
  • NP_000373.1:p.Gly400Arg
  • NP_001026976.1:p.Gly400Arg
  • NP_001356065.1:p.Gly400Arg
  • NP_001356066.1:p.Gly400Arg
  • NP_001356067.1:p.Gly400Arg
  • NP_001356068.1:p.Gly400Arg
  • NP_001356075.1:p.Gly400Arg
  • NP_001356077.1:p.Gly207Arg
  • NC_000017.10:g.19568351G>A
Protein change:
G207R
Molecular consequence:
  • NM_000382.3:c.1198G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001031806.2:c.1198G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369136.1:c.1198G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369137.2:c.1198G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369138.2:c.1198G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369139.1:c.1198G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369146.2:c.1198G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369148.2:c.619G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005094545Genomics, Clalit Research Institute, Clalit Health Care
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 6, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genomics, Clalit Research Institute, Clalit Health Care, SCV005094545.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

Inheritance: The variant was identified in the homozygous state in the sample. Frequency: The variant is absent from the gnomAD reference population dataset. Phenotype : The patient's phenotype or family history is highly compatible with the gene. Prediction tools: REVEL predicts a deleterious effect on the gene or gene product (score 0.91). Clinical evidence: To date, the variant has not been described by reputable sources in clinvar. Sources: This variant has been previously described in the literature; PMID: 31273323. PM2_P, PP3_M, PM3_M, PP4_P

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 18, 2024