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NM_144573.4(NEXN):c.1894G>C (p.Glu632Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 5, 2020
Accession:
VCV000626391.3
Variation ID:
626391
Description:
single nucleotide variant
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NM_144573.4(NEXN):c.1894G>C (p.Glu632Gln)

Allele ID
614739
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 77942695 (GRCh38) GRCh38 UCSC
1: 78408380 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_442:g.59181G>C
LRG_995:g.41399C>G
LRG_442t1:c.1894G>C LRG_442p1:p.Glu632Gln
... more HGVS
Protein change
E632Q, E568Q
Other names
-
Canonical SPDI
NC_000001.11:77942694:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
dbSNP: rs370965740
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 10, 2017 RCV000768808.1
Uncertain significance 1 criteria provided, single submitter Feb 5, 2020 RCV001218078.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Aug 10, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Study: Canadian Open Genetics Repository
Accession: SCV000900181.1
Submitted: (Apr 30, 2018)
Evidence details
Uncertain significance
(Feb 05, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1CC
Familial hypertrophic cardiomyopathy 20
Allele origin: germline
Invitae
Accession: SCV001389946.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glutamic acid with glutamine at codon 632 of the NEXN protein (p.Glu632Gln). The glutamic acid residue is highly conserved and there … (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 rs370965740...

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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 Oct 24, 2021