Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_014053.4(FLVCR1):c.25G>A (p.Gly9Arg)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 14, 2020
Accession:
VCV000865989.2
Variation ID:
865989
Description:
single nucleotide variant
Help

NM_014053.4(FLVCR1):c.25G>A (p.Gly9Arg)

Allele ID
855901
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q32.3
Genomic location
1: 212858477 (GRCh38) GRCh38 UCSC
1: 213031819 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.213031819G>A
NC_000001.11:g.212858477G>A
NM_014053.4:c.25G>A MANE Select NP_054772.1:p.Gly9Arg missense
NG_028131.1:g.5223G>A
Protein change
G9R
Other names
-
Canonical SPDI
NC_000001.11:212858476:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
Help

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 2, 2019 RCV001073652.1
Uncertain significance 1 criteria provided, single submitter Feb 14, 2020 RCV001366519.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 02, 2019)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001239203.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Uncertain significance
(Feb 14, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001562824.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glycine with arginine at codon 9 of the FLVCR1 protein (p.Gly9Arg). The glycine residue is weakly conserved and there is a … (more)

Functional evidence

Help
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

Help
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Apr 18, 2021