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NM_001354768.3(NRL):c.287T>C (p.Met96Thr) AND Retinitis pigmentosa 27

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2012
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:
RCV000032706.25

Allele description [Variation Report for NM_001354768.3(NRL):c.287T>C (p.Met96Thr)]

NM_001354768.3(NRL):c.287T>C (p.Met96Thr)

Gene:
NRL:neural retina leucine zipper [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_001354768.3(NRL):c.287T>C (p.Met96Thr)
HGVS:
  • NC_000014.9:g.24082562A>G
  • NG_011697.2:g.37453T>C
  • NM_001354768.3:c.287T>CMANE SELECT
  • NM_001354769.1:c.287T>C
  • NM_001354770.2:c.66+221T>C
  • NM_006177.5:c.287T>C
  • NP_001341697.1:p.Met96Thr
  • NP_001341698.1:p.Met96Thr
  • NP_006168.1:p.Met96Thr
  • NC_000014.8:g.24551771A>G
  • NM_006177.3:c.287T>C
Protein change:
M96T; MET96THR
Links:
OMIM: 162080.0004; dbSNP: rs397514516
NCBI 1000 Genomes Browser:
rs397514516
Molecular consequence:
  • NM_001354770.2:c.66+221T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354768.3:c.287T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354769.1:c.287T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006177.5:c.287T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinitis pigmentosa 27 (RP27)
Identifiers:
MONDO: MONDO:0013402; MedGen: C1834329; Orphanet: 791; OMIM: 613750

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000056469OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 2012) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.

Hernan I, Gamundi MJ, Borràs E, Maseras M, García-Sandoval B, Blanco-Kelly F, Ayuso C, Carballo M.

Clin Genet. 2012 Nov;82(5):446-52. doi: 10.1111/j.1399-0004.2011.01796.x. Epub 2011 Nov 2.

PubMed [citation]
PMID:
21981118

Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.

Martinez-Gimeno M, Maseras M, Baiget M, Beneito M, Antiñolo G, Ayuso C, Carballo M.

Hum Mutat. 2001 Jun;17(6):520.

PubMed [citation]
PMID:
11385710

Details of each submission

From OMIM, SCV000056469.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a Spanish patient with retinitis pigmentosa (RP27; 613750), Hernan et al. (2012) identified heterozygosity for a 287T-C transition in the NRL gene, resulting in a met96-to-thr (M96T) substitution at a conserved residue. The proband's mother and a maternal aunt were also heterozygous for the mutation, which was not found in 127 controls. The 3 affected individuals had onset of night blindness in the second or third decade of life. The mutation was also present in the proband's sister and a cousin, who remained asymptomatic at ages 37 and 45 years, respectively. Hernan et al. (2012) noted that the RP phenotype in this family was less severe and had later onset of symptoms than previously reported with other NRL mutations; in vitro functional analysis demonstrated that the M96T mutant increased transactivation to a lesser degree than the S50T (162080.0001) or P51L (see Martinez-Gimeno et al., 2001) mutant proteins.

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

Last Updated: Jun 23, 2024