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NM_001370298.3(FGD4):c.1609C>G (p.Leu537Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 12, 2018
Accession:
VCV000308296.2
Variation ID:
308296
Description:
single nucleotide variant
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NM_001370298.3(FGD4):c.1609C>G (p.Leu537Val)

Allele ID
316840
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p11.21
Genomic location
12: 32611143 (GRCh38) GRCh38 UCSC
12: 32764077 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.32764077C>G
NC_000012.12:g.32611143C>G
NG_008626.2:g.216615C>G
... more HGVS
Protein change
L400V, L485V, L56V, L152V, L216V, L307V, L537V
Other names
-
Canonical SPDI
NC_000012.12:32611142:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA6506846
dbSNP: rs750265200
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 16, 2017 RCV000654188.3
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001094111.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FGD4 - - GRCh38
GRCh37
503 539

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 16, 2017)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease type 4
Allele origin: germline
Invitae
Accession: SCV000776078.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces leucine with valine at codon 400 of the FGD4 protein (p.Leu400Val). The leucine residue is highly conserved and there is a … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 4H
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000378182.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (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 rs750265200...

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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