NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu) AND Retinitis pigmentosa

Clinical significance:Uncertain significance (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001136691.1

Allele description [Variation Report for NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu)]

NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu)

Gene:
PCARE:photoreceptor cilium actin regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.2
Genomic location:
Preferred name:
NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu)
HGVS:
  • NC_000002.12:g.29071662G>A
  • NG_021427.1:g.7600C>T
  • NM_001029883.3:c.2600C>TMANE SELECT
  • NP_001025054.1:p.Pro867Leu
  • NP_001025054.1:p.Pro867Leu
  • A6NGG8:p.Pro867Leu
  • NC_000002.11:g.29294528G>A
  • NM_001029883.2:c.2600C>T
Protein change:
P867L
Links:
UniProtKB: A6NGG8#VAR_063396; dbSNP: rs182248363
NCBI 1000 Genomes Browser:
rs182248363
Molecular consequence:
  • NM_001029883.3:c.2600C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration; Retinotapetal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000; Human Phenotype Ontology: HP:0000547

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001296550Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.

Sergouniotis PI, Li Z, Mackay DS, Wright GA, Borman AD, Devery SR, Moore AT, Webster AR.

Invest Ophthalmol Vis Sci. 2011 Mar 30;52(3):1880-6. doi: 10.1167/iovs.10-6043.

PubMed [citation]
PMID:
20811058

Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

Audo I, Lancelot ME, Mohand-Saïd S, Antonio A, Germain A, Sahel JA, Bhattacharya SS, Zeitz C.

Hum Mutat. 2011 Apr;32(4):E2091-103. doi: 10.1002/humu.21460. Epub 2011 Feb 8.

PubMed [citation]
PMID:
21412943
See all PubMed Citations (3)

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001296550.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 16, 2021

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