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NM_001319074.4(RAX2):c.155C>T (p.Pro52Leu) AND Retinitis pigmentosa 95

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 25, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002298467.8

Allele description [Variation Report for NM_001319074.4(RAX2):c.155C>T (p.Pro52Leu)]

NM_001319074.4(RAX2):c.155C>T (p.Pro52Leu)

Gene:
RAX2:retina and anterior neural fold homeobox 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_001319074.4(RAX2):c.155C>T (p.Pro52Leu)
Other names:
P52R
HGVS:
  • NC_000019.10:g.3771588G>A
  • NG_011565.1:g.5634C>T
  • NM_001319074.4:c.155C>TMANE SELECT
  • NM_032753.4:c.155C>T
  • NP_001306003.2:p.Pro52Leu
  • NP_116142.1:p.Pro52Leu
  • NP_116142.1:p.Pro52Leu
  • LRG_1200t1:c.155C>T
  • LRG_1200t2:c.155C>T
  • LRG_1200:g.5634C>T
  • LRG_1200p1:p.Pro52Leu
  • LRG_1200p2:p.Pro52Leu
  • NC_000019.9:g.3771586G>A
  • NM_032753.3:c.155C>T
Protein change:
P52L; PRO52ARG
Links:
OMIM: 610362.0008; dbSNP: rs76076446
NCBI 1000 Genomes Browser:
rs76076446
Molecular consequence:
  • NM_001319074.4:c.155C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032753.4:c.155C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinitis pigmentosa 95
Identifiers:
MONDO: MONDO:0859308; MedGen: C5774244; OMIM: 620102

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002587013OMIM
no assertion criteria provided
Pathogenic
(Oct 25, 2022) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, et al.

Genet Med. 2019 Jun;21(6):1319-1329. doi: 10.1038/s41436-018-0345-5. Epub 2018 Oct 31. Erratum in: Genet Med. 2019 Apr;21(4):1028. doi: 10.1038/s41436-018-0392-y.

PubMed [citation]
PMID:
30377383
PMCID:
PMC6752271

Details of each submission

From OMIM, SCV002587013.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a British sister and brother (patients V and VI) with nonsyndromic retinitis pigmentosa (RP95; 620102), Van de Sompele et al. (2019) identified compound heterozygosity for a c.155C-T transversion (c.155C-T, NM_032753) in the RAX2 gene, resulting in a pro52-to-arg (P52R) substitution at a highly conserved residue within the homeobox domain, and a 7.1-kb deletion spanning the entire RAX2 coding region and extending to the 3-prime end of the MRPL54 gene (611858) (chr19:3,765,788_3,772,920del). Segregation analysis in 3 unaffected sibs showed that 1 of them was heterozygous for the missense variant, and the other 2 did not carry either variant; DNA was unavailable from their deceased parents. Neither variant was found in the dbSNP, ExAC, or gnomAD databases.

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

Last Updated: Oct 8, 2024