NM_000153.4(GALC):c.498del (p.Asn167fs) AND Galactosylceramide beta-galactosidase deficiency

Clinical significance:Pathogenic (Last evaluated: Jun 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001387029.1

Allele description [Variation Report for NM_000153.4(GALC):c.498del (p.Asn167fs)]

NM_000153.4(GALC):c.498del (p.Asn167fs)

Gene:
GALC:galactosylceramidase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
14q31.3
Genomic location:
Preferred name:
NM_000153.4(GALC):c.498del (p.Asn167fs)
HGVS:
  • NC_000014.9:g.87984478del
  • NG_011853.2:g.14086del
  • NG_011853.3:g.14086del
  • NM_000153.4:c.498delMANE SELECT
  • NM_001201401.2:c.429del
  • NM_001201402.2:c.420del
  • NP_000144.2:p.Asn167fs
  • NP_001188330.1:p.Asn144fs
  • NP_001188331.1:p.Asn141fs
  • NC_000014.8:g.88450822del
Protein change:
N141fs
Molecular consequence:
  • NM_000153.4:c.498del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001201401.2:c.429del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001201402.2:c.420del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001587522Invitaecriteria provided, single submitter
Pathogenic
(Jun 1, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, SCV001587522.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Asn167Ilefs*4) 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.

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

Last Updated: May 14, 2021

Support Center