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NM_014053.4(FLVCR1):c.1488dup (p.Leu497fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 5, 2020
Accession:
VCV001071648.1
Variation ID:
1071648
Description:
1bp duplication
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NM_014053.4(FLVCR1):c.1488dup (p.Leu497fs)

Allele ID
1058551
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
1q32.3
Genomic location
1: 212889215-212889216 (GRCh38) GRCh38 UCSC
1: 213062557-213062558 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.213062562dup
NC_000001.11:g.212889220dup
NM_014053.4:c.1488dup MANE Select NP_054772.1:p.Leu497fs frameshift
NG_028131.1:g.35966dup
Protein change
L497fs
Other names
-
Canonical SPDI
NC_000001.11:212889215:TTTTT:TTTTTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Aug 5, 2020 RCV001384165.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FLVCR1 - - GRCh38
GRCh37
300 324

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 05, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001583550.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Leu497Serfs*18) in the FLVCR1 gene. It is expected to result in an absent or disrupted protein … (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
Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. Chiabrando D PLoS genetics 2016 PMID: 27923065
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. Glöckle N European journal of human genetics : EJHG 2014 PMID: 23591405

Record last updated May 13, 2021