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NM_000262.3(NAGA):c.406G>C (p.Asp136His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Sep 13, 2018
Accession:
VCV000658016.1
Variation ID:
658016
Description:
single nucleotide variant
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NM_000262.3(NAGA):c.406G>C (p.Asp136His)

Allele ID
649536
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.2
Genomic location
22: 42067209 (GRCh38) GRCh38 UCSC
22: 42463213 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.42463213C>G
NC_000022.11:g.42067209C>G
NG_009247.1:g.8634G>C
... more HGVS
Protein change
D136H
Other names
-
Canonical SPDI
NC_000022.11:42067208:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00018
Links
dbSNP: rs186173534
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 Sep 13, 2018 RCV000814746.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NAGA - - GRCh38
GRCh37
105 158

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Sep 13, 2018)
criteria provided, single submitter
Method: clinical testing
Schindler disease, type 1
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000955168.1
Submitted: (Mar 28, 2019)
Comment:
This sequence change replaces aspartic acid with histidine at codon 136 of the NAGA protein (p.Asp136His). The aspartic acid residue is moderately 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.

Text-mined citations for rs186173534...

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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 Nov 27, 2021