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NM_006859.4(LIAS):c.120G>T (p.Gln40His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
May 20, 2020
Accession:
VCV000472877.4
Variation ID:
472877
Description:
single nucleotide variant
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NM_006859.4(LIAS):c.120G>T (p.Gln40His)

Allele ID
453421
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p14
Genomic location
4: 39460864 (GRCh38) GRCh38 UCSC
4: 39462484 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.39462484G>T
LRG_1142:g.3085C>A
NC_000004.12:g.39460864G>T
... more HGVS
Protein change
Q40H
Other names
-
Canonical SPDI
NC_000004.12:39460863:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA95724946
dbSNP: rs1041843537
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 May 20, 2020 RCV000542397.4
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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
(May 20, 2020)
criteria provided, single submitter
Method: clinical testing
Pyruvate dehydrogenase lipoic acid synthetase deficiency
Allele origin: germline
Invitae
Accession: SCV000652146.4
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glutamine with histidine at codon 40 of the LIAS protein (p.Gln40His). The glutamine 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 rs1041843537...

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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 30, 2021