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NM_004715.5(CTDP1):c.863+389C>T

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
6 (Most recent: Oct 15, 2021)
Last evaluated:
Jan 1, 2021
Accession:
VCV000005301.11
Variation ID:
5301
Description:
single nucleotide variant
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NM_004715.5(CTDP1):c.863+389C>T

Allele ID
20340
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q23
Genomic location
18: 79710825 (GRCh38) GRCh38 UCSC
18: 77470825 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_236:g.36025C>T
LRG_236t1:c.863+389C>T
NC_000018.10:g.79710825C>T
... more HGVS
Protein change
-
Other names
IVS6, C-T, +389
Canonical SPDI
NC_000018.10:79710824:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA340394
Genetic Testing Registry (GTR): GTR000570472
OMIM: 604927.0001
dbSNP: rs113994102
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, single submitter Jan 1, 2021 RCV001092097.4
Pathogenic 2 no assertion criteria provided Aug 16, 2012 RCV000005622.2
Pathogenic 1 no assertion criteria provided - RCV000789083.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CTDP1 - - GRCh38
GRCh38
GRCh37
155 323

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001248460.6
Submitted: (Jul 04, 2021)
Evidence details
Pathogenic
(Oct 01, 2004)
no assertion criteria provided
Method: literature only
CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY
Allele origin: germline
OMIM
Accession: SCV000025804.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)
pathologic
(Aug 16, 2012)
no assertion criteria provided
Method: curation
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Allele origin: not provided
GeneReviews
Accession: SCV000041120.1
Submitted: (Jan 08, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.
Pathogenic
(-)
no assertion criteria provided
Method: literature only
Charcot-Marie-Tooth disease
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000928432.1
Submitted: (Jul 10, 2019)
Evidence details
Publications
PubMed (1)
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001979101.1
Submitted: (Oct 15, 2021)
Evidence details
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001979376.1
Submitted: (Oct 15, 2021)
Evidence details

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
Congenital Cataracts, Facial Dysmorphism, and Neuropathy Kalaydjieva L - 2017 PMID: 20301787
Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity. Shabo G Pediatric neurology 2005 PMID: 16194727
Mutation history of the roma/gypsies. Morar B American journal of human genetics 2004 PMID: 15322984
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Varon R Nature genetics 2003 PMID: 14517542

Text-mined citations for rs113994102...

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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 Nov 27, 2021