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NM_000235.4(LIPA):c.1133T>C (p.Ile378Thr) AND Lysosomal acid lipase deficiency

Germline classification:
Uncertain significance (1 submission)
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:
RCV003329429.1

Allele description [Variation Report for NM_000235.4(LIPA):c.1133T>C (p.Ile378Thr)]

NM_000235.4(LIPA):c.1133T>C (p.Ile378Thr)

Gene:
LIPA:lipase A, lysosomal acid type [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000235.4(LIPA):c.1133T>C (p.Ile378Thr)
HGVS:
  • NC_000010.11:g.89214895A>G
  • NG_008194.1:g.42009T>C
  • NM_000235.4:c.1133T>CMANE SELECT
  • NM_001127605.3:c.1133T>C
  • NM_001288979.2:c.785T>C
  • NP_000226.2:p.Ile378Thr
  • NP_001121077.1:p.Ile378Thr
  • NP_001275908.1:p.Ile262Thr
  • NC_000010.10:g.90974652A>G
  • NM_000235.2:c.1133T>C
Protein change:
I262T
Links:
dbSNP: rs778013279
NCBI 1000 Genomes Browser:
rs778013279
Molecular consequence:
  • NM_000235.4:c.1133T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127605.3:c.1133T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288979.2:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lysosomal acid lipase deficiency
Synonyms:
Acid cholesteryl ester hydrolase deficiency, type 2
Identifiers:
MONDO: MONDO:0800449; MedGen: C2936797; OMIM: PS278000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004036020Department of Traditional Chinese Medicine, Fujian Provincial Hospital
no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Department of Traditional Chinese Medicine, Fujian Provincial Hospital, SCV004036020.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testingnot provided

Description

We identified a patient clinically diagnosed with lysosomal acid lipase deficiency who carried a heterozygous mutation in LIPA. Lysosomal acid lipase deficiency was originally recessive, but a patient with a heterozygous mutation in LIPA was found to fulfill the clinical diagnosis in our study. The mutation is consistent with "PM1（Located in a mutational hot spot and/or critical and well-established functional domain without benign variation.）+PM2(Absent from controls in Exome Sequencing Project, 1000 Genomes or ExAC.)" according to the scores in the ACMG, and the possibility that this variant causes the disease cannot be excluded; therefore, its association with the disease requires further investigation. A literature search of genes, cDNA changes, and amino acid changes did not identify any publications based on this search. Therefore, the variant was categorized as a variant of unknown significance for the disease.

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

Last Updated: May 1, 2024