NM_000404.4(GLB1):c.1438A>G (p.Met480Val) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Sep 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000669124.1

Allele description [Variation Report for NM_000404.4(GLB1):c.1438A>G (p.Met480Val)]

NM_000404.4(GLB1):c.1438A>G (p.Met480Val)

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.1438A>G (p.Met480Val)
HGVS:
  • NC_000003.12:g.33016750T>C
  • NG_009005.1:g.85453A>G
  • NM_000404.4:c.1438A>GMANE SELECT
  • NM_001079811.3:c.1348A>G
  • NM_001135602.3:c.1045A>G
  • NM_001317040.2:c.1582A>G
  • NM_001393580.1:c.1438A>G
  • NP_000395.3:p.Met480Val
  • NP_001073279.2:p.Met450Val
  • NP_001129074.2:p.Met349Val
  • NP_001303969.2:p.Met528Val
  • NP_001380509.1:p.Met480Val
  • NC_000003.11:g.33058242T>C
  • NM_000404.2:c.1438A>G
Protein change:
M349V
Links:
dbSNP: rs1280400930
NCBI 1000 Genomes Browser:
rs1280400930
Molecular consequence:
  • NM_000404.4:c.1438A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079811.3:c.1348A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135602.3:c.1045A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317040.2:c.1582A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001393580.1:c.1438A>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
SCV000793838Counsylcriteria provided, single submitter
Uncertain significance
(Sep 1, 2017)
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

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

Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.

Higaki K, Li L, Bahrudin U, Okuzawa S, Takamuram A, Yamamoto K, Adachi K, Paraguison RC, Takai T, Ikehata H, Tominaga L, Hisatome I, Iida M, Ogawa S, Matsuda J, Ninomiya H, Sakakibara Y, Ohno K, Suzuki Y, Nanba E.

Hum Mutat. 2011 Jul;32(7):843-52. doi: 10.1002/humu.21516.

PubMed [citation]
PMID:
21520340

Details of each submission

From Counsyl, SCV000793838.1

#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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