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NM_144573.3(NEXN):c.1063G>C (p.Asp355His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 19, 2017)
Last evaluated:
Mar 9, 2017
Accession:
VCV000492981.1
Variation ID:
492981
Description:
single nucleotide variant
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NM_144573.3(NEXN):c.1063G>C (p.Asp355His)

Allele ID
485931
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 77933291 (GRCh38) GRCh38 UCSC
1: 78398976 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_442:g.49777G>C
NC_000001.10:g.78398976G>C
NC_000001.11:g.77933291G>C
... more HGVS
Protein change
D355H, D291H
Other names
-
Canonical SPDI
NC_000001.11:77933290:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA340876521
dbSNP: rs1553239999
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 Mar 9, 2017 RCV000584821.1
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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
(Mar 09, 2017)
criteria provided, single submitter
Method: research
Familial hypertrophic cardiomyopathy 1
(Autosomal dominant inheritance)
Allele origin: germline
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute
Accession: SCV000692492.1
Submitted: (Dec 19, 2017)
Evidence details
Comment:
NEXN Asp355His has not been previously reported in literature. We identified this variant in a HCM proband of European descent. The proband has no family … (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 rs1553239999...

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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 08, 2021