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NM_000404.3(GLB1):c.1769G>A (p.Arg590His) AND GM1 gangliosidosis type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 6, 2013
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000175001.1

Allele description

NM_000404.3(GLB1):c.1769G>A (p.Arg590His)

Gene:
GLB1:galactosidase beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.3
Genomic location:
Preferred name:
NM_000404.3(GLB1):c.1769G>A (p.Arg590His)
HGVS:
  • NC_000003.12:g.32997310C>T
  • NG_009005.1:g.104893G>A
  • NM_000404.3:c.1769G>A
  • NP_000395.2:p.Arg590His
  • NC_000003.11:g.33038802C>T
  • NM_000404.2:c.1769G>A
Protein change:
R590H
Links:
dbSNP: rs398123351
NCBI 1000 Genomes Browser:
rs398123351
Molecular consequence:
  • NM_000404.3:c.1769G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
GM1 gangliosidosis type 2
Synonyms:
GM1-GANGLIOSIDOSIS, TYPE II; GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II; Gangliosidosis, Generalized GM1, Type 2; See all synonyms [MedGen]
Identifiers:
MedGen: C0268272; Orphanet: 354; Orphanet: 79256; OMIM: 230600

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000226420EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
criteria provided, single submitter

(EGL Classification Definitions)		Pathogenic
(Nov 6, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000226420.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Jul 30, 2019