Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_014363.5:c.[1640C>T;1634G>T]

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 10, 2017)
Last evaluated:
Mar 7, 2017
Accession:
VCV000424657.1
Variation ID:
424657
Description:
Haplotype
Help

NM_014363.5:c.[1640C>T;1634G>T]

Other names
-
Functional consequence
-
Links
ClinGen: CA658682655
This haplotype includes the following variants
Help

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 7, 2017 RCV000515975.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SACS - - GRCh38
GRCh37
1807 1899

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 07, 2017)
criteria provided, single submitter
Method: research
Hereditary spastic paraplegia
Allele origin: inherited
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde
Accession: SCV000574461.1
Submitted: (Mar 10, 2017)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. Morais S European journal of human genetics : EJHG 2017 PMID: 28832565

Record last updated Oct 08, 2021