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NM_032504.1(UNC80):c.3793C>T (p.Arg1265Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: May 26, 2020)
Last evaluated:
Mar 19, 2015
Accession:
VCV000219188.2
Variation ID:
219188
Description:
single nucleotide variant
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NM_032504.1(UNC80):c.3793C>T (p.Arg1265Ter)

Allele ID
217216
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q34
Genomic location
2: 209872917 (GRCh38) GRCh38 UCSC
2: 210737641 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.210737641C>T
NC_000002.12:g.209872917C>T
NG_051361.1:g.105993C>T
... more HGVS
Protein change
R1265*, R1260*
Other names
-
Canonical SPDI
NC_000002.12:209872916:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA279955
OMIM: 612636.0005
dbSNP: rs864321622
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Mar 19, 2015 RCV000203568.1
Likely pathogenic 2 criteria provided, single submitter - RCV000207466.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
UNC80 - - GRCh38
GRCh37
229 252

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 19, 2015)
criteria provided, single submitter
Method: research
Encephalopathy
Allele origin: germline
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre
Accession: SCV000258546.1
Submitted: (Dec 06, 2015)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Allele origin: germline
Pathology and Clinical Laboratory Medicine,King Fahad Medical City
Accession: SCV001438906.1
Submitted: (May 26, 2020)
Evidence details
Pathogenic
(Jan 07, 2016)
no assertion criteria provided
Method: literature only
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
Allele origin: germline
OMIM
Accession: SCV000262742.1
Submitted: (Feb 11, 2016)
Evidence details
Publications
PubMed (1)

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
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. Shamseldin HE American journal of human genetics 2016 PMID: 26708753

Text-mined citations for rs864321622...

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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