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NM_144573.3(NEXN):c.1697T>C (p.Met566Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Jul 9, 2018
Accession:
VCV000641866.1
Variation ID:
641866
Description:
single nucleotide variant
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NM_144573.3(NEXN):c.1697T>C (p.Met566Thr)

Allele ID
628266
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 77942498 (GRCh38) GRCh38 UCSC
1: 78408183 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.78408183T>C
NC_000001.11:g.77942498T>C
NM_001172309.1:c.1505T>C NP_001165780.1:p.Met502Thr missense
... more HGVS
Protein change
M502T
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
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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 Jul 9, 2018 RCV000795205.1
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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
277 300

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 09, 2018)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1CC
Familial hypertrophic cardiomyopathy 20
Allele origin: germline
Invitae
Accession: SCV000934651.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces methionine with threonine at codon 566 of the NEXN protein (p.Met566Thr). The methionine residue is weakly conserved and there is a ... (more)

Citations for this variant

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 Oct 27, 2019