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NM_006269.1:c.-12-1431_*286del

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 19, 2021)
Last evaluated:
Jan 30, 2021
Accession:
VCV001048149.1
Variation ID:
1048149
Description:
deletion
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NM_006269.1:c.-12-1431_*286del

Allele ID
1036048
Variant type
Deletion
Variant length
-
Cytogenetic location
-
Genomic location
-
HGVS
-
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
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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 Jan 30, 2021 RCV001352998.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RP1 - - GRCh38
GRCh37
657 684

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 30, 2021)
criteria provided, single submitter
Method: clinical testing
Retinitis pigmentosa 1
Allele origin: germline
Institute of Medical Molecular Genetics, University of Zurich
Accession: SCV001548090.1
Submitted: (Mar 19, 2021)
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
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. Maggi J International journal of molecular sciences 2021 PMID: 33546218

Record last updated Oct 08, 2021