NM_000153.4(GALC):c.210dup (p.Leu71fs) AND Galactosylceramide beta-galactosidase deficiency

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 26, 2019
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:: RCV001219037.2

Allele description

NM_000153.4(GALC):c.210dup (p.Leu71fs)

Gene:

GALC:galactosylceramidase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

14q31.3

Genomic location:

Preferred name:

NM_000153.4(GALC):c.210dup (p.Leu71fs)

HGVS:

NC_000014.9:g.87988510dup
NG_011853.2:g.10055dup
NG_011853.3:g.10055dup
NM_000153.4:c.210dupMANE SELECT
NM_001201401.2:c.196-302dup
NM_001201402.2:c.132dup
NP_000144.2:p.Leu71fs
NP_001188331.1:p.Leu45fs
NC_000014.8:g.88454852_88454853insA
NC_000014.8:g.88454854dup
NM_000153.3:c.210dup

Protein change:

L45fs

Links:

dbSNP: rs1887064841

NCBI 1000 Genomes Browser:

rs1887064841

Molecular consequence:

NM_000153.4:c.210dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001201402.2:c.132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001201401.2:c.196-302dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Galactosylceramide beta-galactosidase deficiency (KRB)
Synonyms:: Krabbe leukodystrophy; Globoid cell leukoencephalopathy; Galactocerebrosidase deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009499; MedGen: C0023521; Orphanet: 487; OMIM: 245200

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001390957	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Mar 26, 2019)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 7437911, 9272171, 16607461, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001390957

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Mar 26, 2019)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

The Twitcher mouse: an enzymatically authentic model of human globoid cell leukodystrophy (Krabbe disease).

Kobayashi T, Yamanaka T, Jacobs JM, Teixeira F, Suzuki K.

Brain Res. 1980 Dec 8;202(2):479-83.

PubMed [citation]

PMID:: 7437911

Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients.

Furuya H, Kukita Y, Nagano S, Sakai Y, Yamashita Y, Fukuyama H, Inatomi Y, Saito Y, Koike R, Tsuji S, Fukumaki Y, Hayashi K, Kobayashi T.

Hum Genet. 1997 Sep;100(3-4):450-6.

PubMed [citation]

PMID:: 9272171

See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001390957.2

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

Description

This sequence change creates a premature translational stop signal (p.Leu71Serfs*18) in the GALC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GALC-related conditions. Loss-of-function variants in GALC are known to be pathogenic (PMID: 7437911, 9272171, 16607461). For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine