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NM_001172309.1(NEXN):c.983G>A (p.Arg328Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 26, 2020)
Accession:
VCV000694567.2
Variation ID:
694567
Description:
single nucleotide variant
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NM_001172309.1(NEXN):c.983G>A (p.Arg328Gln)

Allele ID
682594
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 77933403 (GRCh38) GRCh38 UCSC
1: 78399088 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.78399088G>A
NC_000001.11:g.77933403G>A
NM_001172309.1:c.983G>A NP_001165780.1:p.Arg328Gln missense
... more HGVS
Protein change
R328Q, R392Q
Other names
-
Canonical SPDI
NC_000001.11:77933402:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 - RCV001093571.2
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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
(-)
criteria provided, single submitter
Method: research
Primary dilated cardiomyopathy
Allele origin: unknown
Genetics and Genomics Program,Sidra Medicine
Accession: SCV000999113.1
Submitted: (Aug 26, 2020)
Evidence details

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.

Record last updated Jul 29, 2021