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NM_006859.4(LIAS):c.292C>T (p.Arg98Trp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 20, 2020
Accession:
VCV000206045.3
Variation ID:
206045
Description:
single nucleotide variant
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NM_006859.4(LIAS):c.292C>T (p.Arg98Trp)

Allele ID
201769
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p14
Genomic location
4: 39462269 (GRCh38) GRCh38 UCSC
4: 39463889 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1142:g.1680G>A
NC_000004.11:g.39463889C>T
NC_000004.12:g.39462269C>T
... more HGVS
Protein change
R98W
Other names
-
Canonical SPDI
NC_000004.12:39462268:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs796052702
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 Apr 20, 2020 RCV000696446.3
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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
(Apr 20, 2020)
criteria provided, single submitter
Method: clinical testing
Pyruvate dehydrogenase lipoic acid synthetase deficiency
Allele origin: germline
Invitae
Accession: SCV000825008.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with tryptophan at codon 98 of the LIAS protein (p.Arg98Trp). The arginine residue is highly 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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs796052702...

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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