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NM_006859.4(LIAS):c.23C>T (p.Ala8Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Sep 5, 2018
Accession:
VCV000656689.1
Variation ID:
656689
Description:
single nucleotide variant
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NM_006859.4(LIAS):c.23C>T (p.Ala8Val)

Allele ID
632198
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p14
Genomic location
4: 39459140 (GRCh38) GRCh38 UCSC
4: 39460760 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1142:g.4809G>A
NC_000004.11:g.39460760C>T
NC_000004.12:g.39459140C>T
... more HGVS
Protein change
A8V
Other names
-
Canonical SPDI
NC_000004.12:39459139:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs1467308371
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 Sep 5, 2018 RCV000813169.1
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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
LOC112939935 - - - GRCh38 - 27

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 05, 2018)
criteria provided, single submitter
Method: clinical testing
Pyruvate dehydrogenase lipoic acid synthetase deficiency
Allele origin: germline
Invitae
Accession: SCV000953514.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces alanine with valine at codon 8 of the LIAS protein (p.Ala8Val). The alanine residue is weakly 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 rs1467308371...

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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 Oct 24, 2021