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

Clinical significance:Uncertain significance (Last evaluated: Feb 13, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
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 (GM1G2)
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 (GM1G3)
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 (GM1G1)
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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000797824Counsylcriteria provided, single submitter
Uncertain significance
(Feb 13, 2018)
unknownclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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