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NM_001370298.3(FGD4):c.1736G>A (p.Arg579His)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(1)

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Jul 10, 2019)
Last evaluated:
Sep 13, 2012
Accession:
VCV000038443.3
Variation ID:
38443
Description:
single nucleotide variant
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NM_001370298.3(FGD4):c.1736G>A (p.Arg579His)

Allele ID
47002
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p11.21
Genomic location
12: 32611270 (GRCh38) GRCh38 UCSC
12: 32764204 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_240:g.216742G>A
LRG_240t2:c.1580G>A LRG_240p2:p.Arg527His
LRG_240t1:c.1325G>A LRG_240p1:p.Arg442His
... more HGVS
Protein change
R442H, R527H, R258H, R194H, R349H, R98H, R579H
Other names
-
Canonical SPDI
NC_000012.12:32611269:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA343101
dbSNP: rs281865063
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Sep 13, 2012 RCV000031999.2
Uncertain significance 1 no assertion criteria provided - RCV000789100.1
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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
(-)
no assertion criteria provided
Method: literature only
Charcot-Marie-Tooth disease
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000928451.1
Submitted: (Jul 10, 2019)
Evidence details
Publications
PubMed (1)
pathologic
(Sep 13, 2012)
no assertion criteria provided
Method: curation
Charcot-Marie-Tooth Neuropathy Type 4
Allele origin: not provided
GeneReviews
Accession: SCV000054705.1
Submitted: (Nov 29, 2012)
Evidence details
Comment:
Converted during submission to Pathogenic.

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
Charcot-Marie-Tooth Neuropathy Type 4 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY Bird TD - 2016 PMID: 20301641
Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H). Baudot C Journal of the peripheral nervous system : JPNS 2012 PMID: 22734899

Text-mined citations for rs281865063...

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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