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NM_178857.6(RP1L1):c.235C>T (p.Arg79Cys)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jul 29, 2014)
Accession:
VCV000143165.1
Variation ID:
143165
Description:
single nucleotide variant
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NM_178857.6(RP1L1):c.235C>T (p.Arg79Cys)

Allele ID
152883
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p23.1
Genomic location
8: 10622967 (GRCh38) GRCh38 UCSC
8: 10480477 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.10480477G>A
NC_000008.11:g.10622967G>A
NG_028035.1:g.37141C>T
NM_178857.6:c.235C>T MANE Select NP_849188.4:p.Arg79Cys missense
Protein change
R79C
Other names
-
Canonical SPDI
NC_000008.11:10622966:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00014
The Genome Aggregation Database (gnomAD) 0.00006
Exome Aggregation Consortium (ExAC) 0.00016
Trans-Omics for Precision Medicine (TOPMed) 0.00007
Links
ClinGen: CA270131
dbSNP: rs377269054
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 no assertion criteria provided - RCV000132696.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RP1L1 - - GRCh38
GRCh38
GRCh37
558 674

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
probable-pathogenic
(-)
no assertion criteria provided
Method: not provided
Retinitis pigmentosa
Allele origin: not provided
Department of Ophthalmology and Visual Sciences Kyoto University
Accession: SCV000172649.1
Submitted: (Jul 29, 2014)
Evidence details
Comment:
Converted during submission to Likely pathogenic.

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 rs377269054...

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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