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NM_144573.3(NEXN):c.2026_*1del

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 25, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000201946.4
Variation ID:
201946
Description:
4bp deletion
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NM_144573.3(NEXN):c.2026_*1del

Allele ID
198107
Variant type
Deletion
Variant length
4 bp
Cytogenetic location
1p31.1
Genomic location
1: 77942824-77942827 (GRCh38) GRCh38 UCSC
1: 78408509-78408512 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_144573.3:c.2026_*1delTAAT frameshift stop lost
NM_144573.3:c.2026_2029delTAAT frameshift stop lost
NM_001172309.1:c.1834_1837delTAAT frameshift stop lost
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:77942823:AATTAAT:AAT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA335472
dbSNP: rs794729094
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 Sep 11, 2017 RCV000183688.2
Uncertain significance 1 criteria provided, single submitter Oct 7, 2020 RCV001043340.2
Uncertain significance 1 criteria provided, single submitter Dec 4, 2020 RCV001704887.1
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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
357 379

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000236157.8
Submitted: (Sep 25, 2021)
Evidence details
Comment:
Has not been previously published as pathogenic or benign to our knowledge
Uncertain significance
(Sep 11, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000713662.1
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (2)
Comment:
The p.X676HisextX9 variant in NEXN has not been previously reported in individua ls with cardiomyopathy but has been identified in 13/34248 of Latino chromosomes by … (more)
Uncertain significance
(Oct 07, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1CC
Familial hypertrophic cardiomyopathy 20
Allele origin: germline
Invitae
Accession: SCV001207076.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change results in a frameshift in the NEXN gene (p.*676Hisext*8). While this is not anticipated to result in nonsense mediated decay, it is … (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
Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. Wang H American journal of human genetics 2010 PMID: 20970104
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. Hassel D Nature medicine 2009 PMID: 19881492

Text-mined citations for rs794729094...

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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 Sep 26, 2021