NM_006859.4(LIAS):c.637A>G (p.Thr213Ala) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jan 17, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000188057.1

Allele description [Variation Report for NM_006859.4(LIAS):c.637A>G (p.Thr213Ala)]

NM_006859.4(LIAS):c.637A>G (p.Thr213Ala)

Gene:
LIAS:lipoic acid synthetase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p14
Genomic location:
Preferred name:
NM_006859.4(LIAS):c.637A>G (p.Thr213Ala)
Other names:
p.T213A:ACT>GCT
HGVS:
  • NC_000004.12:g.39467546A>G
  • NG_032111.1:g.13502A>G
  • NM_001278590.2:c.608+2204A>G
  • NM_001363700.2:c.328A>G
  • NM_006859.4:c.637A>GMANE SELECT
  • NM_194451.3:c.637A>G
  • NP_001350629.1:p.Thr110Ala
  • NP_006850.2:p.Thr213Ala
  • NP_919433.1:p.Thr213Ala
  • NC_000004.11:g.39469166A>G
  • NM_006859.2:c.637A>G
  • NM_006859.3:c.637A>G
Protein change:
T110A
Links:
dbSNP: rs374709255
NCBI 1000 Genomes Browser:
rs374709255
Molecular consequence:
  • NM_001278590.2:c.608+2204A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363700.2:c.328A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006859.4:c.637A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194451.3:c.637A>G - 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
SCV000241660GeneDxcriteria provided, single submitter
Uncertain significance
(Jan 17, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000241660.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Thr213Ala (ACT>GCT): c.637 A>G in exon 7 of the LIAS gene (NM_006859.2). The Thr213Ala missense change in the LIAS gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a non-conservative amino acid substitution of a polar Threonine residue with a non-polar Alanine residue at a position that is highly conserved across species. In silico analysis is inconsistent with regard to the effect this variant may have on the protein structure/function. Therefore, based on the currently available information, it is unclear whether Thr213Ala is a disease-causing mutation or a rare benign variant. The variant is found in INFANT-EPI,EPILEPSY panel(s).

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

Last Updated: Nov 27, 2021

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