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

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 14, 2020
Accession:
VCV000206048.5
Variation ID:
206048
Description:
single nucleotide variant
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NM_006859.4(LIAS):c.637A>G (p.Thr213Ala)

Allele ID
201773
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p14
Genomic location
4: 39467546 (GRCh38) GRCh38 UCSC
4: 39469166 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.39469166A>G
NC_000004.12:g.39467546A>G
NG_032111.1:g.13502A>G
... more HGVS
Protein change
T213A, T110A
Other names
p.T213A:ACT>GCT
Canonical SPDI
NC_000004.12:39467545:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00007
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
The Genome Aggregation Database (gnomAD), exomes 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD) 0.00008
Exome Aggregation Consortium (ExAC) 0.00006
Links
ClinGen: CA315756
dbSNP: rs374709255
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 17, 2014 RCV000188057.1
Uncertain significance 1 criteria provided, single submitter Feb 14, 2020 RCV000822700.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LIAS - - GRCh38
GRCh37
214 263

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 17, 2014)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000241660.11
Submitted: (Jan 29, 2019)
Evidence details
Comment:
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 … (more)
Uncertain significance
(Feb 14, 2020)
criteria provided, single submitter
Method: clinical testing
Pyruvate dehydrogenase lipoic acid synthetase deficiency
Allele origin: germline
Invitae
Accession: SCV000963513.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces threonine with alanine at codon 213 of the LIAS protein (p.Thr213Ala). The threonine residue is moderately conserved and there is a … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs374709255...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021