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NM_001563.4(IMPG1):c.1519C>T (p.Arg507Ter) AND Vitelliform macular dystrophy 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 5, 2013
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:
RCV000149549.12

Allele description [Variation Report for NM_001563.4(IMPG1):c.1519C>T (p.Arg507Ter)]

NM_001563.4(IMPG1):c.1519C>T (p.Arg507Ter)

Gene:
IMPG1:interphotoreceptor matrix proteoglycan 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q14.1
Genomic location:
Preferred name:
NM_001563.4(IMPG1):c.1519C>T (p.Arg507Ter)
HGVS:
  • NC_000006.12:g.75950867G>A
  • NG_041812.1:g.126812C>T
  • NM_001282368.2:c.1285C>T
  • NM_001563.4:c.1519C>TMANE SELECT
  • NP_001269297.1:p.Arg429Ter
  • NP_001554.2:p.Arg507Ter
  • NP_001554.2:p.Arg507Ter
  • NC_000006.11:g.76660584G>A
  • NM_001563.3:c.1519C>T
Protein change:
R429*; ARG507TER
Links:
OMIM: 602870.0002; dbSNP: rs367576664
NCBI 1000 Genomes Browser:
rs367576664
Molecular consequence:
  • NM_001282368.2:c.1285C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001563.4:c.1519C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Vitelliform macular dystrophy 4
Identifiers:
MONDO: MONDO:0014508; MedGen: C4015342; Orphanet: 99000; OMIM: 616151

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000196506OMIM
no assertion criteria provided
Pathogenic
(Sep 5, 2013) 		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

Mutations in IMPG1 cause vitelliform macular dystrophies.

Manes G, Meunier I, Avila-Fernández A, Banfi S, Le Meur G, Zanlonghi X, Corton M, Simonelli F, Brabet P, Labesse G, Audo I, Mohand-Said S, Zeitz C, Sahel JA, Weber M, Dollfus H, Dhaenens CM, Allorge D, De Baere E, Koenekoop RK, Kohl S, Cremers FP, et al.

Am J Hum Genet. 2013 Sep 5;93(3):571-8. doi: 10.1016/j.ajhg.2013.07.018. Epub 2013 Aug 29.

PubMed [citation]
PMID:
23993198
PMCID:
PMC3769927

Details of each submission

From OMIM, SCV000196506.2

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

Description

In a French brother and sister with vitelliform macular dystrophy (VMD4; 616151), Manes et al. (2013) identified compound heterozygosity for a c.1519C-T transition in exon 13 of the IMPG1 gene, resulting in an arg507-to-ter (R507X) substitution, and a c.461T-C transition in exon 3, resulting in a leu154-to-pro (L154P; 602870.0003) substitution at a conserved residue. The L154P mutation was not found in public SNP databases, and the R507X mutation was found at low frequency (1/13,006 alleles) in the Exome Variant Server database. The sibs' asymptomatic father carried the nonsense mutation; DNA was unavailable from their deceased mother. In addition, 4 asymptomatic children were heterozygous for 1 of the mutations: on examination, the sister's son, who carried the L154P missense mutation, had a slight defect in the line between the inner and outer segments in the nasal parafovea of the left eye, whereas her daughter, who carried the R507X nonsense mutation, had normal funduscopy.

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

Last Updated: Nov 10, 2024