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NM_000153.4(GALC):c.181_182insAG (p.Val61fs) AND Galactosylceramide beta-galactosidase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 30, 2022
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:
RCV001382729.6

Allele description [Variation Report for NM_000153.4(GALC):c.181_182insAG (p.Val61fs)]

NM_000153.4(GALC):c.181_182insAG (p.Val61fs)

Genes:
LOC130056217:ATAC-STARR-seq lymphoblastoid silent region 5988 [Gene]
GALC:galactosylceramidase [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
14q31.3
Genomic location:
Preferred name:
NM_000153.4(GALC):c.181_182insAG (p.Val61fs)
HGVS:
  • NC_000014.9:g.87992984_87992985insTC
  • NG_011853.3:g.5580_5581insAG
  • NM_000153.4:c.181_182insAGMANE SELECT
  • NM_001201401.2:c.181_182insAG
  • NM_001201402.2:c.117+399_117+400insGA
  • NP_000144.2:p.Val61fs
  • NP_001188330.1:p.Val61fs
  • NC_000014.8:g.88459327_88459328insCT
  • NC_000014.8:g.88459328_88459329insTC
  • NG_011853.2:g.5580_5581insAG
Protein change:
V61fs
Links:
dbSNP: rs1887278169
NCBI 1000 Genomes Browser:
rs1887278169
Molecular consequence:
  • NM_000153.4:c.181_182insAG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001201401.2:c.181_182insAG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001201402.2:c.117+399_117+400insGA - intron variant - [Sequence Ontology: SO:0001627]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001581632Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 30, 2022) 		germlineclinical testing

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

Help

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, SCV001581632.5

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

Description

This sequence change creates a premature translational stop signal (p.Val61Glufs*12) in the GALC gene. It is expected to result in an absent or disrupted protein product. 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. ClinVar contains an entry for this variant (Variation ID: 1070539). This variant has not been reported in the literature in individuals affected with GALC-related conditions. This variant is not present in population databases (gnomAD no frequency).

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

Last Updated: Feb 20, 2024