NM_001029883.3(PCARE):c.530C>T (p.Pro177Leu) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Nov 24, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000757048.3

Allele description [Variation Report for NM_001029883.3(PCARE):c.530C>T (p.Pro177Leu)]

NM_001029883.3(PCARE):c.530C>T (p.Pro177Leu)

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.530C>T (p.Pro177Leu)
HGVS:
  • NC_000002.12:g.29073732G>A
  • NG_021427.1:g.5530C>T
  • NM_001029883.3:c.530C>TMANE SELECT
  • NP_001025054.1:p.Pro177Leu
  • NC_000002.11:g.29296598G>A
  • NM_001029883.2:c.530C>T
Protein change:
P177L
Links:
dbSNP: rs190791051
NCBI 1000 Genomes Browser:
rs190791051
Molecular consequence:
  • NM_001029883.3:c.530C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000885130ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Jun 19, 2018)
germlineclinical testing

Citation Link,

SCV001711613Invitaecriteria provided, single submitter
Likely benign
(Nov 24, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000885130.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The C2orf71 c.530C>T; p.Pro177Leu variant (rs190791051) is reported in the medical literature in an individual with retinitis pigmentosa (Haer-Wigman 2017). The variant is found in the African population with an allele frequency of 0.5% (111/24012 alleles) in the Genome Aggregation Database. The proline at codon 177 is conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Considering available information, there is insufficient evidence to classify the variant with certainty. Pathogenic C2orf71 variants are causative for autosomal recessive retinitis pigmentosa (MIM: 613428). References: Haer-Wigman L et al. Diagnostic exome sequencing in 266 Dutch patients with visual impairment. Eur J Hum Genet. 2017 May;25(5):591-599.

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

From Invitae, SCV001711613.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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