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NM_001563.4(IMPG1):c.332G>A (p.Arg111Gln) AND Vitelliform macular dystrophy 4

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV001535679.1

Allele description [Variation Report for NM_001563.4(IMPG1):c.332G>A (p.Arg111Gln)]

NM_001563.4(IMPG1):c.332G>A (p.Arg111Gln)

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.332G>A (p.Arg111Gln)
HGVS:
  • NC_000006.12:g.76034757C>T
  • NG_041812.1:g.42922G>A
  • NM_001282368.2:c.98G>A
  • NM_001563.2:c.332G>A
  • NM_001563.4:c.332G>AMANE SELECT
  • NP_001269297.1:p.Arg33Gln
  • NP_001554.2:p.Arg111Gln
  • NC_000006.11:g.76744474C>T
  • NM_001563.3:c.332G>A
Protein change:
R111Q
Links:
dbSNP: rs200194885
NCBI 1000 Genomes Browser:
rs200194885
Molecular consequence:
  • NM_001282368.2:c.98G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001563.4:c.332G>A - 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
SCV001749748GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749748.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 06-06-2021 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: Nov 10, 2024