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NM_000434.4(NEU1):c.679G>A (p.Gly227Arg)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 24, 2021)
Last evaluated:
Feb 1, 2021
Accession:
VCV000430342.8
Variation ID:
430342
Description:
single nucleotide variant
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NM_000434.4(NEU1):c.679G>A (p.Gly227Arg)

Allele ID
421583
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p21.33
Genomic location
6: 31860558 (GRCh38) GRCh38 UCSC
6: 31828335 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.31828335C>T
NC_000006.12:g.31860558C>T
NG_008201.1:g.7375G>A
NM_000434.4:c.679G>A MANE Select NP_000425.1:p.Gly227Arg missense
Protein change
G227R
Other names
-
Canonical SPDI
NC_000006.12:31860557:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00004
Links
ClinGen: CA3724984
dbSNP: rs769765227
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts Feb 1, 2021 RCV000494284.8
Pathogenic 1 criteria provided, single submitter Mar 21, 2016 RCV000587143.1
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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
Pathogenic
(Mar 21, 2016)
criteria provided, single submitter
Method: clinical testing
Sialidosis
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000696697.1
Submitted: (Jan 25, 2018)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: The NEU1 c.679G>A variant affects a conserved nucleotide, resulting in amino acid change from Gly to Arg. 4/4 in-silico tools predict damaging outcome … (more)
Pathogenic
(Sep 13, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000583127.3
Submitted: (Sep 24, 2021)
Evidence details
Comment:
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports … (more)
Pathogenic
(Oct 16, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001421404.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces glycine with arginine at codon 227 of the NEU1 protein (p.Gly227Arg). The glycine residue is highly conserved and there is a … (more)
Pathogenic
(Feb 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001502480.3
Submitted: (Jul 04, 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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Title Author Journal Year Link
Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement. Mohammad AN Molecular genetics and metabolism reports 2018 PMID: 30023283
Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion. Schene IF JIMD reports 2016 PMID: 26141460
Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus. Canafoglia L Neurology 2014 PMID: 24808020
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. Caciotti A Journal of neurology 2009 PMID: 19568825
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 rs769765227...

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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 07, 2021