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NM_144573.4(NEXN):c.864G>T (p.Met288Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 21, 2019)
Last evaluated:
Apr 3, 2015
Accession:
VCV000229060.2
Variation ID:
229060
Description:
single nucleotide variant
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NM_144573.4(NEXN):c.864G>T (p.Met288Ile)

Allele ID
228517
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 77926892 (GRCh38) GRCh38 UCSC
1: 78392577 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.78392577G>T
NC_000001.11:g.77926892G>T
NM_144573.4:c.864G>T MANE Select NP_653174.3:p.Met288Ile missense
... more HGVS
Protein change
M288I, M224I
Other names
-
Canonical SPDI
NC_000001.11:77926891:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA918746
dbSNP: rs371666396
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 3, 2015 RCV000217251.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NEXN - - GRCh38
GRCh37
359 381

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 03, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000272217.3
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (2)
Comment:
Variant classified as Uncertain Significance - Favor Pathogenic. The p.Met288Ile variant in NEXN has not been reported in individuals with cardiomyopathy, but h as been … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Pugh TJ Genetics in medicine : official journal of the American College of Medical Genetics 2014 PMID: 24503780
Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease. Syrmou A Pediatric research 2013 PMID: 23481551

Text-mined citations for rs371666396...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 07, 2021