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NM_144573.4(NEXN):c.1619T>C (p.Met540Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 17, 2019)
Last evaluated:
Jul 3, 2019
Accession:
VCV000691811.1
Variation ID:
691811
Description:
single nucleotide variant
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NM_144573.4(NEXN):c.1619T>C (p.Met540Thr)

Allele ID
679528
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 77942168 (GRCh38) GRCh38 UCSC
1: 78407853 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.78407853T>C
NC_000001.11:g.77942168T>C
NG_016625.1:g.58654T>C
... more HGVS
Protein change
M540T, M476T
Other names
-
Canonical SPDI
NC_000001.11:77942167:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs531641059
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 Jul 3, 2019 RCV000853122.1
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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
359 381

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 03, 2019)
criteria provided, single submitter
Method: research
Primary dilated cardiomyopathy
Allele origin: germline
Klaassen Lab,Charite University Medicine Berlin
Accession: SCV000995833.1
Submitted: (Jul 17, 2019)
Evidence details
Publications
PubMed (2)

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
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. K├╝hnisch J Clinical genetics 2019 PMID: 31568572
RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy. Al-Wakeel-Marquard N Journal of the American Heart Association 2019 PMID: 31333075

Text-mined citations for rs531641059...

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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