NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) AND Infantile GM1 gangliosidosis

Clinical significance:Pathogenic (Last evaluated: Apr 19, 2021)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001582457.1

Allele description [Variation Report for NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)]

NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)

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.152T>C (p.Ile51Thr)
HGVS:
  • NC_000003.12:g.33072637A>G
  • NG_009005.1:g.29566T>C
  • NM_000404.4:c.152T>CMANE SELECT
  • NM_001079811.3:c.62T>C
  • NM_001135602.3:c.152T>C
  • NM_001317040.2:c.296T>C
  • NM_001393580.1:c.152T>C
  • NP_000395.3:p.Ile51Thr
  • NP_001073279.2:p.Ile21Thr
  • NP_001129074.2:p.Ile51Thr
  • NP_001303969.2:p.Ile99Thr
  • NP_001380509.1:p.Ile51Thr
  • NC_000003.11:g.33114129A>G
  • NM_000404.2:c.152T>C
Protein change:
I21T; ILE51THR
Links:
OMIM: 611458.0004; dbSNP: rs72555390
NCBI 1000 Genomes Browser:
rs72555390
Molecular consequence:
  • NM_000404.4:c.152T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079811.3:c.62T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135602.3:c.152T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317040.2:c.296T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001393580.1:c.152T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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
SCV001821208GeneReviewsno assertion criteria providedPathogenic
(Apr 19, 2021)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis.

Feng Y, Huang Y, Zhao X, Sheng H, Feng Y, Zhang W, Liu L.

Metab Brain Dis. 2018 Dec;33(6):2051-2057. doi: 10.1007/s11011-018-0315-2. Epub 2018 Sep 28.

PubMed [citation]
PMID:
30267299

Details of each submission

From GeneReviews, SCV001821208.1

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

Description

High prevalence in Japan; associated with GM1 adult form

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

Last Updated: Nov 11, 2021

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