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NM_000262.3(NAGA):c.838C>A (p.Leu280Ile)

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 5, 2020
Accession:
VCV001165456.1
Variation ID:
1165456
Description:
single nucleotide variant
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NM_000262.3(NAGA):c.838C>A (p.Leu280Ile)

Allele ID
1159207
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.2
Genomic location
22: 42062946 (GRCh38) GRCh38 UCSC
22: 42458950 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.42458950G>T
NC_000022.11:g.42062946G>T
NM_000262.3:c.838C>A MANE Select NP_000253.1:p.Leu280Ile missense
... more HGVS
Protein change
L280I
Other names
-
Canonical SPDI
NC_000022.11:42062945:G: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
Benign 1 criteria provided, single submitter Nov 5, 2020 RCV001512584.1
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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
105 157

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Nov 05, 2020)
criteria provided, single submitter
Method: clinical testing
Alpha-N-acetylgalactosaminidase deficiency type 1
Allele origin: germline
Invitae
Accession: SCV001720029.1
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.

Record last updated Jun 19, 2021