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NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jul 20, 2021)
Last evaluated:
Jan 31, 2020
Accession:
VCV000201924.8
Variation ID:
201924
Description:
single nucleotide variant
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NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile)

Allele ID
198089
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 77935842 (GRCh38) GRCh38 UCSC
1: 78401527 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_442:g.52328C>T
LRG_442t1:c.1271C>T LRG_442p1:p.Thr424Ile
NC_000001.10:g.78401527C>T
... more HGVS
Protein change
T424I, T360I
Other names
p.T424I:ACC>ATC
Canonical SPDI
NC_000001.11:77935841:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Links
dbSNP: rs200442502
ClinGen: CA335412
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 Aug 2, 2019 RCV000183662.4
Uncertain significance 1 criteria provided, single submitter Jul 11, 2019 RCV000529099.2
Uncertain significance 1 criteria provided, single submitter Apr 11, 2019 RCV001170728.1
Uncertain significance 1 criteria provided, single submitter Jan 31, 2020 RCV001256887.1
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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
372 394

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 02, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000236131.10
Submitted: (Jul 20, 2021)
Evidence details
Comment:
Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance but additional evidence is … (more)
Uncertain significance
(Apr 11, 2019)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Accession: SCV001333331.1
Submitted: (Mar 03, 2020)
Evidence details
Uncertain significance
(Jan 31, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1A
Allele origin: germline
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute
Accession: SCV001433384.1
Submitted: (Jul 24, 2020)
Evidence details
Uncertain significance
(Jul 11, 2019)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1CC
Familial hypertrophic cardiomyopathy 20
Allele origin: germline
Invitae
Accession: SCV000648475.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces threonine with isoleucine at codon 424 of the NEXN protein (p.Thr424Ile). The threonine residue is weakly conserved and there is a … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs200442502...

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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 Dec 04, 2021