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NM_001384732.1(CPLANE1):c.3857G>A (p.Arg1286His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 7, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003479389.1

Allele description [Variation Report for NM_001384732.1(CPLANE1):c.3857G>A (p.Arg1286His)]

NM_001384732.1(CPLANE1):c.3857G>A (p.Arg1286His)

Gene:
CPLANE1:ciliogenesis and planar polarity effector complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p13.2
Genomic location:
Preferred name:
NM_001384732.1(CPLANE1):c.3857G>A (p.Arg1286His)
HGVS:
  • NC_000005.10:g.37187797C>T
  • NG_032772.2:g.66632G>A
  • NM_001384732.1:c.3857G>AMANE SELECT
  • NM_023073.4:c.3857G>A
  • NP_001371661.1:p.Arg1286His
  • NP_075561.3:p.Arg1286His
  • NC_000005.9:g.37187899C>T
Protein change:
R1286H
Links:
dbSNP: rs139464953
NCBI 1000 Genomes Browser:
rs139464953
Molecular consequence:
  • NM_001384732.1:c.3857G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_023073.4:c.3857G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004223474Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Nov 7, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.

Nuovo S, Fuiano L, Micalizzi A, Battini R, Bertini E, Borgatti R, Caridi G, D'Arrigo S, Fazzi E, Fischetto R, Ghiggeri GM, Giordano L, Leuzzi V, Romaniello R, Signorini S, Stringini G, Zanni G, Romani M, Valente EM, Emma F.

Nephrol Dial Transplant. 2020 Jul 1;35(7):1195-1202. doi: 10.1093/ndt/gfy333.

PubMed [citation]
PMID:
30403813
PMCID:
PMC7417010

Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome.

Xiang J, Zhang L, Jiang W, Zhang Q, Wang T, Li H, Li H.

Biomed Res Int. 2018;2018:7202168. doi: 10.1155/2018/7202168.

PubMed [citation]
PMID:
29955609
PMCID:
PMC6000882
See all PubMed Citations (4)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004223474.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

Variant summary: CPLANE1 c.3857G>A (p.Arg1286His) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.8e-05 in 282504 control chromosomes (gnomAD). c.3857G>A has been reported in the literature in compound heterozygous individuals affected with Joubert Syndrome And Related Disorders (Xiang_2018, Nuovo_2020, Zhang_2021). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 30403813, 29955609, 34091942, 32047782). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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

Last Updated: Apr 7, 2025