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NM_022041.3(GAN):c.216G>A (p.Lys72=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 21, 2019
Accession:
VCV000799945.3
Variation ID:
799945
Description:
single nucleotide variant
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NM_022041.3(GAN):c.216G>A (p.Lys72=)

Allele ID
785390
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q23.2
Genomic location
16: 81351631 (GRCh38) GRCh38 UCSC
16: 81385236 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_242:g.41666G>A
LRG_242t1:c.216G>A LRG_242p1:p.Lys72=
NC_000016.10:g.81351631G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:81351630:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs780435880
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 Oct 21, 2019 RCV000983571.3
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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
(Oct 21, 2019)
criteria provided, single submitter
Method: clinical testing
Giant axonal neuropathy 1
Allele origin: germline
Invitae
Accession: SCV001131595.3
Submitted: (Jan 07, 2021)
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 rs780435880...

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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