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NM_001563.4(IMPG1):c.713T>G (p.Leu238Arg) 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:
RCV000149547.13

Allele description [Variation Report for NM_001563.4(IMPG1):c.713T>G (p.Leu238Arg)]

NM_001563.4(IMPG1):c.713T>G (p.Leu238Arg)

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.713T>G (p.Leu238Arg)
HGVS:
  • NC_000006.12:g.76018812A>C
  • NG_041812.1:g.58867T>G
  • NM_001282368.2:c.479T>G
  • NM_001563.4:c.713T>GMANE SELECT
  • NP_001269297.1:p.Leu160Arg
  • NP_001554.2:p.Leu238Arg
  • NP_001554.2:p.Leu238Arg
  • NC_000006.11:g.76728529A>C
  • NM_001563.3:c.713T>G
  • Q17R60:p.Leu238Arg
Protein change:
L160R; LEU238ARG
Links:
UniProtKB: Q17R60#VAR_072669; OMIM: 602870.0001; dbSNP: rs713993045
NCBI 1000 Genomes Browser:
rs713993045
Molecular consequence:
  • NM_001282368.2:c.479T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001563.4:c.713T>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000196504OMIM
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, SCV000196504.3

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

Description

In affected members from 3 multiplex families with autosomal dominant vitelliform macular dystrophy (VMD4; 616151), 2 French and 1 Spanish, Manes et al. (2013) identified heterozygosity for a c.713T-G transversion in exon 7 of the IMPG1 gene, resulting in a leu238-to-pro (L238P) substitution at a conserved residue in the start of the N-terminal SEA1 domain. The mutation segregated with disease in all 3 families and was not found in public SNP databases or in 114 ethnically matched controls. Haplotype analysis demonstrated that all affected individuals shared the same alleles of the 2 markers flanking IMPG1, D6S456 and D6S1589, indicating that the 3 families might be distantly related.

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

Last Updated: Apr 20, 2024