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NM_001370298.3(FGD4):c.1535A>T (p.Asp512Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 30, 2020
Accession:
VCV001017321.1
Variation ID:
1017321
Description:
single nucleotide variant
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NM_001370298.3(FGD4):c.1535A>T (p.Asp512Val)

Allele ID
1010404
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p11.21
Genomic location
12: 32608087 (GRCh38) GRCh38 UCSC
12: 32761021 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.32761021A>T
NC_000012.12:g.32608087A>T
NG_008626.2:g.213559A>T
... more HGVS
Protein change
D127V, D191V, D282V, D31V, D375V, D460V, D512V
Other names
-
Canonical SPDI
NC_000012.12:32608086:A:T
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
Uncertain significance 1 criteria provided, single submitter Mar 30, 2020 RCV001316453.1
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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
501 537

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 30, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease type 4
Allele origin: germline
Invitae
Accession: SCV001507077.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces aspartic acid with valine at codon 375 of the FGD4 protein (p.Asp375Val). The aspartic acid residue is highly conserved and there … (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.

Record last updated Oct 08, 2021