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NM_000253.3(MTTP):c.2593G>T (p.Gly865Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Mar 28, 2019)
Last evaluated:
Nov 15, 2018
Accession:
VCV000014243.3
Variation ID:
14243
Description:
single nucleotide variant
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NM_000253.3(MTTP):c.2593G>T (p.Gly865Ter)

Allele ID
29282
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q23
Genomic location
4: 99622756 (GRCh38) GRCh38 UCSC
4: 100543913 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.100543913G>T
NC_000004.12:g.99622756G>T
NM_000253.3:c.2593G>T NP_000244.2:p.Gly865Ter nonsense
... more HGVS
Protein change
G865*
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00012
Trans-Omics for Precision Medicine (TOPMed) 0.00005
Exome Aggregation Consortium (ExAC) 0.00007
Links
ClinGen: CA123825
OMIM: 157147.0010
dbSNP: rs146064714
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts Jul 24, 2017 RCV000015311.22
Pathogenic 2 criteria provided, multiple submitters, no conflicts Nov 15, 2018 RCV000760413.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MTTP - - GRCh38
GRCh37
93 107

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 19, 2017)
criteria provided, single submitter
Method: clinical testing
Abetalipoproteinaemia
Allele origin: germline
Integrated Genetics/Laboratory Corporation of America
Accession: SCV000696301.1
Submitted: (Jan 25, 2018)
Evidence details
Publications
PubMed (4)
Comment:
Variant summary: The MTTP c.2593G>T (p.Gly865X) variant results in a premature termination codon, predicted to cause a truncated or absent MTTP protein due to nonsense ... (more)
Pathogenic
(Jul 24, 2017)
criteria provided, single submitter
Method: clinical testing
Abetalipoproteinaemia
Allele origin: unknown
Counsyl
Accession: SCV000792926.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (3)
Pathogenic
(Nov 15, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000890290.1
Submitted: (Mar 13, 2019)
Evidence details
Comment:
The G865X variant in the MTTP gene has been identified in multiple unrelated homozygous and compound heterozygous individuals with a diagnosis of abetalipoproteinaemia. (Wang et ... (more)
Pathogenic
(Sep 24, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000940106.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change results in a premature translational stop signal in the MTTP gene (p.Gly865*). While this is not anticipated to result in nonsense mediated ... (more)
Pathogenic
(Apr 01, 2007)
no assertion criteria provided
Method: literature only
ABETALIPOPROTEINEMIA
Allele origin: germline
OMIM
Accession: SCV000035570.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Is one diagnosis the whole story? patients with double diagnoses. Kurolap A American journal of medical genetics. Part A 2016 PMID: 27271787
Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function. Zeissig S The Journal of clinical investigation 2010 PMID: 20592474
Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. Benayoun L Molecular genetics and metabolism 2007 PMID: 17275380
Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia. Wang J Human mutation 2000 PMID: 10679949
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. Narcisi TM American journal of human genetics 1995 PMID: 8533758
A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia. Ricci B The Journal of biological chemistry 1995 PMID: 7782284

Record last updated Nov 08, 2019