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NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Aug 24, 2018
Accession:
VCV000658832.1
Variation ID:
658832
Description:
single nucleotide variant
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NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg)

Allele ID
648988
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.13
Genomic location
21: 36936735 (GRCh38) GRCh38 UCSC
21: 38309035 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000021.8:g.38309035A>C
NC_000021.9:g.36936735A>C
NG_016193.2:g.58660T>G
... more HGVS
Protein change
L237R, L384R
Other names
-
Canonical SPDI
NC_000021.9:36936734:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs119103227
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 Aug 24, 2018 RCV000815726.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HLCS - - GRCh38
GRCh37
514 581

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Aug 24, 2018)
criteria provided, single submitter
Method: clinical testing
Holocarboxylase synthetase deficiency
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000956194.1
Submitted: (Mar 28, 2019)
Comment:
This sequence change replaces leucine with arginine at codon 237 of the HLCS protein (p.Leu237Arg). The leucine 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 rs119103227...

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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