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NM_000404.4(GLB1):c.1771T>A (p.Tyr591Asn) AND GM1-gangliosidosis, type I, with cardiac involvement

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2000
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000000997.3

Allele description [Variation Report for NM_000404.4(GLB1):c.1771T>A (p.Tyr591Asn)]

NM_000404.4(GLB1):c.1771T>A (p.Tyr591Asn)

Gene:
GLB1:galactosidase beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.3
Genomic location:
Preferred name:
NM_000404.4(GLB1):c.1771T>A (p.Tyr591Asn)
HGVS:
  • NC_000003.12:g.32997308A>T
  • NG_009005.1:g.104895T>A
  • NM_000404.4:c.1771T>AMANE SELECT
  • NM_001079811.3:c.1681T>A
  • NM_001135602.3:c.1378T>A
  • NM_001317040.2:c.1915T>A
  • NM_001393580.1:c.1734+16748T>A
  • NP_000395.3:p.Tyr591Asn
  • NP_001073279.2:p.Tyr561Asn
  • NP_001129074.2:p.Tyr460Asn
  • NP_001303969.2:p.Tyr639Asn
  • NC_000003.11:g.33038800A>T
Protein change:
Y460N; TYR591ASN
Links:
OMIM: 611458.0025; dbSNP: rs72555373
NCBI 1000 Genomes Browser:
rs72555373
Molecular consequence:
  • NM_001393580.1:c.1734+16748T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000404.4:c.1771T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079811.3:c.1681T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135602.3:c.1378T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317040.2:c.1915T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
GM1-gangliosidosis, type I, with cardiac involvement
Identifiers:
MedGen: C1968748

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000021147OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2000) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.

Morrone A, Bardelli T, Donati MA, Giorgi M, Di Rocco M, Gatti R, Parini R, Ricci R, Taddeucci G, D'Azzo A, Zammarchi E.

Hum Mutat. 2000;15(4):354-66.

PubMed [citation]
PMID:
10737981

Details of each submission

From OMIM, SCV000021147.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an infant with type I GM1-gangliosidosis with cardiac involvement (see 230500), Morrone et al. (2000) identified a homozygous 1771T-A transversion in exon 16 of the GLB1 gene, resulting in a tyr591-to-asn (Y591N) substitution, in a region common to the lysosomal enzyme and the EPB. The child had dilated cardiomyopathy and aortic stenosis. An affected fetus had the same mutation. The family was from Campania in southern Italy.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 4, 2023