NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 29, 2017
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:: RCV000665726.1

Allele description [Variation Report for NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn)]

NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn)

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.1038G>C (p.Lys346Asn)

HGVS:

NC_000003.12:g.33046150C>G
NG_009005.1:g.56053G>C
NM_000404.4:c.1038G>CMANE SELECT
NM_001079811.3:c.948G>C
NM_001135602.3:c.645G>C
NM_001317040.2:c.1182G>C
NM_001393580.1:c.1038G>C
NP_000395.3:p.Lys346Asn
NP_001073279.2:p.Lys316Asn
NP_001129074.2:p.Lys215Asn
NP_001303969.2:p.Lys394Asn
NP_001380509.1:p.Lys346Asn
NC_000003.11:g.33087642C>G
NM_000404.2:c.1038G>C

Protein change:

K215N

Links:

dbSNP: rs749980306

NCBI 1000 Genomes Browser:

rs749980306

Molecular consequence:

NM_000404.4:c.1038G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001079811.3:c.948G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001135602.3:c.645G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001317040.2:c.1182G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001393580.1:c.1038G>C - 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
SCV000789892	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Mar 29, 2017)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 24777551, 16941474, 21520340, 19472408 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000789892

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Mar 29, 2017)

unknown

clinical testing

PubMed (4)
[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

Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.

King JE, Dexter A, Gadi I, Zvereff V, Martin M, Bloom M, Vanderver A, Pizzino A, Schmidt JL.

J Genet Couns. 2014 Oct;23(5):734-41. doi: 10.1007/s10897-014-9720-9. Epub 2014 Apr 30. Review.

PubMed [citation]

PMID:: 24777551

Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.

Santamaria R, Chabás A, Coll MJ, Miranda CS, Vilageliu L, Grinberg D.

Hum Mutat. 2006 Oct;27(10):1060.

PubMed [citation]

PMID:: 16941474

See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000789892.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	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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