NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu) AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 28, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001216194.2

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_001369137.1:c.1094C>T
  • NM_001369138.1:c.1094C>T
  • NM_001369139.1:c.1094C>T
  • NM_001369146.1:c.1094C>T
  • NM_001369148.1: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
  • 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_001369137.1:c.1094C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369138.1:c.1094C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369139.1:c.1094C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369146.1:c.1094C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369148.1:c.515C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001387976Invitaecriteria provided, single submitter
Pathogenic
(Mar 28, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome.

Sillén A, Anton-Lamprecht I, Braun-Quentin C, Kraus CS, Sayli BS, Ayuso C, Jagell S, Küster W, Wadelius C.

Hum Mutat. 1998;12(6):377-84.

PubMed [citation]
PMID:
9829906

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
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV001387976.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

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 large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Sjogren-Larsson syndrome (PMID: 9829906, 17902024, 31273323). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 371221). This variant has been reported to substantially decrease the activity of the ALDH3A2 protein in patient cells and mammalian cell lines (PMID: 19965611). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 10, 2021

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