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NM_022041.3(GAN):c.993C>T (p.Phe331=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000702225.2
Variation ID:
702225
Description:
single nucleotide variant
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NM_022041.3(GAN):c.993C>T (p.Phe331=)

Allele ID
693937
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q23.2
Genomic location
16: 81362518 (GRCh38) GRCh38 UCSC
16: 81396123 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.81362518C>T
NC_000016.9:g.81396123C>T
NG_009007.1:g.52553C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:81362517:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00007
Exome Aggregation Consortium (ExAC) 0.00011
Trans-Omics for Precision Medicine (TOPMed) 0.00002
1000 Genomes Project 0.00020
Links
dbSNP: rs199908897
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Dec 31, 2019 RCV000871192.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GAN - - GRCh38
GRCh37
477 529

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
Giant axonal neuropathy 1
Allele origin: germline
Invitae
Accession: SCV001012801.2
Submitted: (Jan 29, 2020)
Evidence details

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 rs199908897...

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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 16, 2021