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NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) AND Retinitis pigmentosa

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Aug 1, 2019
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:
RCV000993758.3

Allele description [Variation Report for NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)]

NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)

Genes:
GPHN:gephyrin [Gene - OMIM - HGNC]
RDH12:retinol dehydrogenase 12 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.1
Genomic location:
Preferred name:
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)
HGVS:
  • NC_000014.9:g.67725206C>A
  • NG_008321.1:g.28321C>A
  • NM_152443.3:c.295C>AMANE SELECT
  • NP_689656.2:p.Leu99Ile
  • NC_000014.8:g.68191923C>A
  • NM_152443.2:c.295C>A
  • Q96NR8:p.Leu99Ile
Protein change:
L99I; LEU99ILE
Links:
UniProtKB: Q96NR8#VAR_020860; OMIM: 608830.0010; dbSNP: rs28940315
NCBI 1000 Genomes Browser:
rs28940315
Molecular consequence:
  • NM_152443.3:c.295C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001146952Ocular Genomics Institute, Massachusetts Eye and Ear
no assertion criteria provided
Pathogenic
(Aug 1, 2019) 		germlineclinical testing

SCV001161223Sharon lab, Hadassah-Hebrew University Medical Center
no assertion criteria provided
Pathogenic
(Jun 23, 2019) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providednot providedclinical testing
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Ocular Genomics Institute, Massachusetts Eye and Ear, SCV001146952.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001161223.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 7, 2024