NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu) AND Sjögren-Larsson syndrome

Clinical significance:Likely pathogenic (Last evaluated: Aug 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000410901.1

Allele description [Variation Report for NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu)]

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

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.1094C>T (p.Ser365Leu)
HGVS:
  • NC_000017.11:g.19663486C>T
  • NG_007095.2:g.19736C>T
  • NM_000382.3:c.1094C>TMANE SELECT
  • NM_001031806.2:c.1094C>T
  • NM_001369136.1:c.1094C>T
  • NM_001369137.2:c.1094C>T
  • NM_001369138.2:c.1094C>T
  • NM_001369139.1:c.1094C>T
  • NM_001369146.2:c.1094C>T
  • NM_001369148.2:c.515C>T
  • NP_000373.1:p.Ser365Leu
  • NP_001026976.1:p.Ser365Leu
  • NP_001356065.1:p.Ser365Leu
  • NP_001356066.1:p.Ser365Leu
  • NP_001356067.1:p.Ser365Leu
  • NP_001356068.1:p.Ser365Leu
  • NP_001356075.1:p.Ser365Leu
  • NP_001356077.1:p.Ser172Leu
  • NC_000017.10:g.19566799C>T
  • NC_000017.10:g.19566799C>T
  • NM_000382.2:c.1094C>T
Protein change:
S172L
Molecular consequence:
  • NM_000382.3:c.1094C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001031806.2:c.1094C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369136.1:c.1094C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369137.2:c.1094C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369138.2:c.1094C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369139.1:c.1094C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369146.2:c.1094C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369148.2:c.515C>T - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000486749Counsylcriteria provided, single submitter
Likely pathogenic
(Aug 1, 2016)
unknownclinical testing

PubMed (5)
[See all records that cite these PMIDs]

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

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

Citations

PubMed

Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome.

Didona B, Codispoti A, Bertini E, Rizzo WB, Carney G, Zambruno G, Dionisi-Vici C, Paradisi M, Pedicelli C, Melino G, Terrinoni A.

J Hum Genet. 2007;52(10):865-870. doi: 10.1007/s10038-007-0180-z.

PubMed [citation]
PMID:
17902024
PMCID:
PMC3057174

Understanding mutations and protein stability through tripeptides.

Anishetty S, Anishetty R, Pennathur G.

FEBS Lett. 2006 Apr 3;580(8):2071-80. Epub 2006 Mar 10.

PubMed [citation]
PMID:
16546179
See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000486749.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 24, 2021

Support Center