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NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 29, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000225460.3
Variation ID:
225460
Description:
1bp insertion
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NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs)

Allele ID
227317
Variant type
Insertion
Variant length
1 bp
Cytogenetic location
8p23.1
Genomic location
8: 10622877-10622878 (GRCh38) GRCh38 UCSC
8: 10480387-10480388 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.10480387_10480388insA
NC_000008.11:g.10622877_10622878insA
NM_178857.6:c.324_325insT MANE Select NP_849188.4:p.Pro109fs frameshift
NG_028035.1:g.37230_37231insT
Protein change
P109fs
Other names
-
Canonical SPDI
NC_000008.11:10622877::A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00211
The Genome Aggregation Database (gnomAD), exomes 0.00201
The Genome Aggregation Database (gnomAD) 0.00127
Links
ClinGen: CA4625762
dbSNP: rs138816053
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Dec 31, 2019 RCV000895968.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jun 14, 2016 RCV000277090.1
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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
555 671

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 18, 2016)
criteria provided, single submitter
Method: reference population
Occult macular dystrophy
Allele origin: germline
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center
Accession: SCV000267481.1
Submitted: (Apr 14, 2016)
Evidence details
Publications
PubMed (1)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Occult Macular Dystrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000471258.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001040037.2
Submitted: (Jan 29, 2020)
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
RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy. Davidson AE Human mutation 2013 PMID: 23281133

Text-mined citations for rs138816053...

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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 Jul 31, 2021