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NM_000235.4(LIPA):c.883C>A (p.His295Asn) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 23, 2024
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:
RCV004703133.1

Allele description [Variation Report for NM_000235.4(LIPA):c.883C>A (p.His295Asn)]

NM_000235.4(LIPA):c.883C>A (p.His295Asn)

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.883C>A (p.His295Asn)
HGVS:
  • NC_000010.11:g.89222522G>T
  • NG_008194.1:g.34382C>A
  • NM_000235.4:c.883C>AMANE SELECT
  • NM_001127605.3:c.883C>A
  • NM_001288979.2:c.535C>A
  • NP_000226.2:p.His295Asn
  • NP_001121077.1:p.His295Asn
  • NP_001275908.1:p.His179Asn
  • NC_000010.10:g.90982279G>T
Protein change:
H179N
Molecular consequence:
  • NM_000235.4:c.883C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127605.3:c.883C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288979.2:c.535C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005202935Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jul 23, 2024) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.

Almeida LS, Pereira C, Aanicai R, Schröder S, Bochinski T, Kaune A, Urzi A, Spohr TCLS, Viceconte N, Oppermann S, Alasel M, Ebadat S, Iftikhar S, Jasinge E, Elsayed SM, Tomoum H, Marzouk I, Jalan AB, Cerkauskaite A, Cerkauskiene R, Tkemaladze T, Nadeem AM, et al.

Eur J Hum Genet. 2022 Sep;30(9):1029-1035. doi: 10.1038/s41431-022-01119-5. Epub 2022 May 25.

PubMed [citation]
PMID:
35614200
PMCID:
PMC9437014

Living-Donor Liver Transplantation for Late-Onset Lysosomal Acid Lipase Deficiency.

Ramakrishna SH, Kasala MB, Perumal K, Malleeswaran S, Patcha RV, Varghese J.

J Clin Exp Hepatol. 2022 Mar-Apr;12(2):672-676. doi: 10.1016/j.jceh.2021.06.022. Epub 2021 Jul 6.

PubMed [citation]
PMID:
35535100
PMCID:
PMC9077196

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005202935.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: LIPA c.883C>A (p.His295Asn) results in a conservative amino acid change located in the Alpha/beta hydrolase fold-1 domain (IPR000073) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251260 control chromosomes. c.883C>A has been reported in the literature as homozygous genotype in an individual affected with Lysosomal Acid Lipase Deficiency (Ramakrishna_2022). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 35614200, 35535100). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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

Last Updated: Sep 29, 2024