U.S. flag

An official website of the United States government

NM_002778.4(PSAP):c.577-1G>T AND Sphingolipid activator protein 1 deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 1996
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000014295.26

Allele description [Variation Report for NM_002778.4(PSAP):c.577-1G>T]

NM_002778.4(PSAP):c.577-1G>T

Gene:
PSAP:prosaposin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_002778.4(PSAP):c.577-1G>T
HGVS:
  • NC_000010.11:g.71828158C>A
  • NG_009301.1:g.28168G>T
  • NM_001042465.3:c.577-1G>T
  • NM_001042466.3:c.577-1G>T
  • NM_002778.4:c.577-1G>TMANE SELECT
  • NC_000010.10:g.73587915C>A
  • NM_002778.2:c.577-1G>T
Note:
ClinGen staff contributed the HGVS expression for this variant.
Nucleotide change:
IVS5AS, G-T, -1
Links:
OMIM: 176801.0006; dbSNP: rs1589451049
NCBI 1000 Genomes Browser:
rs1589451049
Molecular consequence:
  • NM_001042465.3:c.577-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001042466.3:c.577-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_002778.4:c.577-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Sphingolipid activator protein 1 deficiency
Synonyms:
METACHROMATIC LEUKODYSTROPHY DUE TO CEREBROSIDE SULFATASE ACTIVATOR DEFICIENCY; Metachromatic leukodystrophy due to saposin B deficiency; Saposin B Deficiency
Identifiers:
MONDO: MONDO:0009590; MedGen: C0268262; Orphanet: 512; OMIM: 249900

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
SCV000034544OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 1996)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy.

Henseler M, Klein A, Reber M, Vanier MT, Landrieu P, Sandhoff K.

Am J Hum Genet. 1996 Jan;58(1):65-74.

PubMed [citation]
PMID:
8554069
PMCID:
PMC1914953

Details of each submission

From OMIM, SCV000034544.3

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

Description

In a Turkish patient with metachromatic leukodystrophy due to saposin B deficiency (MLDSAPB; 249900), Henseler et al. (1996) identified a homozygous G-to-T transversion in intron 5 of the PSAP gene, resulting in a splice site abnormality. The consanguineous parents and both grandfathers of the patient were carriers of the mutation. Two distinct mutant mRNA species were identified: one with an in-frame deletion of the first 21 bases of exon 6, and the other with a complete in-frame deletion of that exon. Pulse-chase experiments using pulse-head normal cDNAs expressed in baby hamster kidney cells showed that the deletion of 21 bp had no effect on the transport and the maturation of the encoded precursor. All SAP forms, except saposin B, were detectable by immunochemical methods. The cDNA bearing a complete deletion of exon 6 encoded a shortened precursor of only 60 kD, and no mature SAPs were detectable.

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

Last Updated: Jan 13, 2025