NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 13, 2018
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:: RCV000672690.1

Allele description [Variation Report for NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys)]

NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys)

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.971A>G (p.Tyr324Cys)

HGVS:

NC_000003.12:g.33046217T>C
NG_009005.1:g.55986A>G
NM_000404.4:c.971A>GMANE SELECT
NM_001079811.3:c.881A>G
NM_001135602.3:c.578A>G
NM_001317040.2:c.1115A>G
NM_001393580.1:c.971A>G
NP_000395.3:p.Tyr324Cys
NP_001073279.2:p.Tyr294Cys
NP_001129074.2:p.Tyr193Cys
NP_001303969.2:p.Tyr372Cys
NP_001380509.1:p.Tyr324Cys
NC_000003.11:g.33087709T>C
NM_000404.2:c.971A>G

Protein change:

Y193C

Links:

dbSNP: rs977975596

NCBI 1000 Genomes Browser:

rs977975596

Molecular consequence:

NM_000404.4:c.971A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001079811.3:c.881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001135602.3:c.578A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001317040.2:c.1115A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001393580.1:c.971A>G - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000797824	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Feb 13, 2018)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 16617000, 23337983 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000797824

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Feb 13, 2018)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Fibroblast screening for chaperone therapy in beta-galactosidosis.

Iwasaki H, Watanabe H, Iida M, Ogawa S, Tabe M, Higaki K, Nanba E, Suzuki Y.

Brain Dev. 2006 Sep;28(8):482-6. Epub 2006 Apr 17.

PubMed [citation]

PMID:: 16617000

A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis.

Takai T, Higaki K, Aguilar-Moncayo M, Mena-Barragán T, Hirano Y, Yura K, Yu L, Ninomiya H, García-Moreno MI, Sakakibara Y, Ohno K, Nanba E, Ortiz Mellet C, García Fernández JM, Suzuki Y.

Mol Ther. 2013 Mar;21(3):526-32. doi: 10.1038/mt.2012.263. Epub 2013 Jan 22.

PubMed [citation]

PMID:: 23337983
PMCID:: PMC3589148

Details of each submission

From Counsyl, SCV000797824.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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: Mar 5, 2024

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