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NM_022041.3(GAN):c.413G>T (p.Arg138Leu)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Nov 25, 2015
Accession:
VCV000245992.2
Variation ID:
245992
Description:
single nucleotide variant
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NM_022041.3(GAN):c.413G>T (p.Arg138Leu)

Allele ID
245005
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q23.2
Genomic location
16: 81354535 (GRCh38) GRCh38 UCSC
16: 81388140 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.81354535G>T
NC_000016.9:g.81388140G>T
NM_022041.3:c.413G>T NP_071324.1:p.Arg138Leu missense
... more HGVS
Protein change
R138L
Other names
-
Canonical SPDI
NC_000016.10:81354534:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10584537
dbSNP: rs119485092
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Nov 25, 2015 RCV000235676.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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 pathogenic
(Nov 25, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000293253.10
Submitted: (Jan 29, 2019)
Evidence details
Comment:
A novel R138L variant that is likely pathogenic has also been identified in the GAN gene. The R138L variant has not been published as a … (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 rs119485092...

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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 Feb 27, 2021