NM_000404.4(GLB1):c.176G>A (p.Arg59His) AND multiple conditions

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 7, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000850557.2

Allele description [Variation Report for NM_000404.4(GLB1):c.176G>A (p.Arg59His)]

NM_000404.4(GLB1):c.176G>A (p.Arg59His)

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.176G>A (p.Arg59His)

HGVS:

NC_000003.12:g.33072613C>T
NG_009005.1:g.29590G>A
NM_000404.4:c.176G>AMANE SELECT
NM_001079811.3:c.86G>A
NM_001135602.3:c.176G>A
NM_001317040.2:c.320G>A
NM_001393580.1:c.176G>A
NP_000395.2:p.Arg59His
NP_000395.3:p.Arg59His
NP_001073279.2:p.Arg29His
NP_001129074.2:p.Arg59His
NP_001303969.2:p.Arg107His
NP_001380509.1:p.Arg59His
NC_000003.11:g.33114105C>T
NM_000404.2:c.176G>A

Protein change:

R107H; ARG59HIS

Links:

OMIM: 611458.0023; dbSNP: rs72555392

NCBI 1000 Genomes Browser:

rs72555392

Molecular consequence:

NM_000404.4:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001079811.3:c.86G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001135602.3:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001317040.2:c.320G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001393580.1:c.176G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: GM1 gangliosidosis type 2
Synonyms:: GM1-GANGLIOSIDOSIS, TYPE II; GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II; Gangliosidosis, generalized GM1, juvenile type; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009261; MedGen: C0268272; Orphanet: 354; Orphanet: 79256; OMIM: 230600

Name:: GM1 gangliosidosis type 3
Synonyms:: GM1-GANGLIOSIDOSIS, TYPE III; GANGLIOSIDOSIS, GENERALIZED GM1, ADULT TYPE; GANGLIOSIDOSIS, GENERALIZED GM1, CHRONIC TYPE; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009262; MedGen: C0268273; OMIM: 230650

Name:: Mucopolysaccharidosis, MPS-IV-B (MPS4B)
Synonyms:: MPS IVB; Morquio syndrome B; MPS 4B; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009660; MedGen: C0086652; Orphanet: 582; OMIM: 253010

Name:: Infantile GM1 gangliosidosis
Synonyms:: Gangliosidosis, Generalized GM1, Type 1; GM1 gangliosidosis type 1; GM1-gangliosidosis, type I; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009260; MedGen: C0268271; Orphanet: 354; OMIM: 230500

Recent activity

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Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 3, mRN...
Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 3, mRNA
gi|21536332|ref|NM_144729.1|

Nucleotide
RecName: Full=Small glutamine-rich tetratricopeptide repeat-containing protein b...
RecName: Full=Small glutamine-rich tetratricopeptide repeat-containing protein beta; AltName: Full=Beta-SGT; AltName: Full=Small glutamine-rich protein with tetratricopeptide repeats 2
gi|41018109|sp|Q96EQ0.1|SGTB_HUMAN

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000992771	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 3, 2012)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 10338095, 17664528, 25741868
SCV002788809	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 7, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000992771

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 3, 2012)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV002788809

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 7, 2021)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis.

Silva CM, Severini MH, Sopelsa A, Coelho JC, Zaha A, d'Azzo A, Giugliani R.

Hum Mutat. 1999;13(5):401-9.

PubMed [citation]

PMID:: 10338095

Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.

Santamaria R, Chabás A, Callahan JW, Grinberg D, Vilageliu L.

J Lipid Res. 2007 Oct;48(10):2275-82. Epub 2007 Jul 30.

PubMed [citation]

PMID:: 17664528

See all PubMed Citations (3)

Details of each submission

From Baylor Genetics, SCV000992771.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Fulgent Genetics, Fulgent Genetics, SCV002788809.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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