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NM_000235.4(LIPA):c.955C>T (p.His319Tyr) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 19, 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:
RCV002374303.2

Allele description [Variation Report for NM_000235.4(LIPA):c.955C>T (p.His319Tyr)]

NM_000235.4(LIPA):c.955C>T (p.His319Tyr)

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.955C>T (p.His319Tyr)
Other names:
p.His319Tyr
HGVS:
  • NC_000010.11:g.89215949G>A
  • NG_008194.1:g.40955C>T
  • NM_000235.4:c.955C>TMANE SELECT
  • NM_001127605.3:c.955C>T
  • NM_001288979.2:c.607C>T
  • NP_000226.2:p.His319Tyr
  • NP_001121077.1:p.His319Tyr
  • NP_001275908.1:p.His203Tyr
  • NC_000010.10:g.90975706G>A
  • NM_000235.2:c.955C>T
Protein change:
H203Y
Molecular consequence:
  • NM_000235.4:c.955C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127605.3:c.955C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288979.2:c.607C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002690762Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 19, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002690762.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.H319Y variant (also known as c.955C>T), located in coding exon 8 of the LIPA gene, results from a C to T substitution at nucleotide position 955. The histidine at codon 319 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024