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NM_006269.2(RP1):c.1234dup (p.Met412fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Apr 26, 2021)
Last evaluated:
Apr 8, 2021
Accession:
VCV000802404.2
Variation ID:
802404
Description:
1bp duplication
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NM_006269.2(RP1):c.1234dup (p.Met412fs)

Allele ID
790804
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
8q12.1
Genomic location
8: 54625113-54625114 (GRCh38) GRCh38 UCSC
8: 55537673-55537674 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.55537676dup
NC_000008.11:g.54625116dup
NG_009840.1:g.14050dup
... more HGVS
Protein change
M412fs
Other names
-
Canonical SPDI
NC_000008.11:54625113:AAA:AAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs760283610
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter May 28, 2019 RCV000988058.1
Likely pathogenic 1 criteria provided, single submitter Apr 8, 2021 RCV001376505.1
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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
Pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Retinitis pigmentosa
Allele origin: unknown
Mendelics
Accession: SCV001137623.1
Submitted: (Oct 22, 2019)
Evidence details
Likely pathogenic
(Apr 08, 2021)
criteria provided, single submitter
Method: research
Retinitis pigmentosa 1
Allele origin: germline
Ocular Genomics Institute, Massachusetts Eye and Ear
Accession: SCV001573678.1
Submitted: (Apr 26, 2021)
Evidence details
Comment:
The RP1 c.1234dup variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we … (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 rs760283610...

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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