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NM_000434.4(NEU1):c.544A>G (p.Ser182Gly)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Apr 24, 2019)
Last evaluated:
Sep 26, 2018
Accession:
VCV000430337.3
Variation ID:
430337
Description:
single nucleotide variant
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NM_000434.4(NEU1):c.544A>G (p.Ser182Gly)

Allele ID
421584
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p21.33
Genomic location
6: 31861259 (GRCh38) GRCh38 UCSC
6: 31829036 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.31829036T>C
NC_000006.12:g.31861259T>C
NM_000434.4:c.544A>G MANE Select NP_000425.1:p.Ser182Gly missense
... more HGVS
Protein change
S182G
Other names
-
Canonical SPDI
NC_000006.12:31861258:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00011
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Exome Aggregation Consortium (ExAC) 0.00009
Links
ClinGen: CA3725021
dbSNP: rs398123392
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 May 23, 2017 RCV000492831.1
Pathogenic 1 criteria provided, single submitter Sep 26, 2018 RCV000781657.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NEU1 - - GRCh38
GRCh38
GRCh38
GRCh38
GRCh38
GRCh38
GRCh38
GRCh38
GRCh37
98 110

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 23, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000583122.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The S182G variant in the NEU1 gene has been reported previously in the homozygous state in an individual with sialidosis type 1, diagnosed at 24 … (more)
Pathogenic
(Sep 26, 2018)
criteria provided, single submitter
Method: clinical testing
Sialidosis
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000919869.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: NEU1 c.544A>G (p.Ser182Gly) results in a non-conservative amino acid change located in the Sialidase domain of the encoded protein sequence. Three of five … (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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Title Author Journal Year Link
First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study. Chen CM Journal of the neurological sciences 2006 PMID: 16712870
Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. Lukong KE Human molecular genetics 2000 PMID: 10767332

Text-mined citations for rs398123392...

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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 Jun 14, 2021