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NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala) AND Gaucher disease due to saposin C deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 14, 2021
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:
RCV001449850.1

Allele description [Variation Report for NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala)]

NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala)

Gene:
PSAP:prosaposin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala)
HGVS:
  • NC_000010.11:g.71819830T>G
  • NG_009301.1:g.36496A>C
  • NM_001042465.3:c.1085A>C
  • NM_001042466.3:c.1082A>C
  • NM_002778.4:c.1076A>CMANE SELECT
  • NP_001035930.1:p.Glu362Ala
  • NP_001035931.1:p.Glu361Ala
  • NP_002769.1:p.Glu359Ala
  • NC_000010.10:g.73579587T>G
Protein change:
E359A
Links:
dbSNP: rs765744298
NCBI 1000 Genomes Browser:
rs765744298
Molecular consequence:
  • NM_001042465.3:c.1085A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042466.3:c.1082A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002778.4:c.1076A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Gaucher disease due to saposin C deficiency
Synonyms:
Atypical Gaucher disease due to saposin C deficiency; Saposin C Deficiency
Identifiers:
MONDO: MONDO:0012517; MedGen: C1864651; Orphanet: 355; OMIM: 610539

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001652887Center for Statistical Genetics, Columbia University
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Apr 14, 2021)
inheritedresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
asianinheritedyes4not providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center for Statistical Genetics, Columbia University, SCV001652887.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1asian1not providednot providedresearch PubMed (1)
2asian1not providednot providedresearch PubMed (1)
3asian1not providednot providedresearch PubMed (1)
4asian1not providednot providedresearch PubMed (1)

Description

A homozygous novel missense variant c.1076A>C: p.(Glu359Ala) in exon 10 of the PSAP gene was observed in all affected family members

By using exome and Sanger sequencing a homozygous novel missense variant c.1076A>C: p.(Glu359Ala) in exon 10 of the PSAP gene was observed in affected family member

By using exome and Sanger sequencing a homozygous novel missense variant c.1076A>C: p.(Glu359Ala) in exon 10 of the PSAP gene was observed in the affected family member.

Using exome and Sanger sequencing a homozygous novel missense variant c.1076A>C: p.(Glu359Ala) in exon 10 of the PSAP gene was observed in affected family member.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided
2inheritedyesnot providednot providednot provided1not providednot providednot provided
3inheritedyesnot providednot providednot provided1not providednot providednot provided
4inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jan 13, 2025