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NM_152443.3(RDH12):c.716G>T (p.Arg239Leu) AND Retinitis pigmentosa

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Jun 21, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001003156.2

Allele description [Variation Report for NM_152443.3(RDH12):c.716G>T (p.Arg239Leu)]

NM_152443.3(RDH12):c.716G>T (p.Arg239Leu)

Genes:
GPHN:gephyrin [Gene - OMIM - HGNC]
RDH12:retinol dehydrogenase 12 [Gene - OMIM - HGNC]
ZFYVE26:zinc finger FYVE-type containing 26 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.1
Genomic location:
Preferred name:
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu)
HGVS:
  • NC_000014.9:g.67729248G>T
  • NG_008321.1:g.32363G>T
  • NM_152443.3:c.716G>TMANE SELECT
  • NP_689656.2:p.Arg239Leu
  • NC_000014.8:g.68195965G>T
  • NM_152443.2:c.716G>T
Protein change:
R239L
Links:
dbSNP: rs1239043055
NCBI 1000 Genomes Browser:
rs1239043055
Molecular consequence:
  • NM_152443.3:c.716G>T - 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
SCV001161227Sharon lab, Hadassah-Hebrew University Medical Center
no assertion criteria provided
Likely pathogenic
(Jun 23, 2019) 		inheritedresearch

SCV001815945DBGen Ocular Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 21, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch
unspecifiedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001161227.1

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

From DBGen Ocular Genomics, SCV001815945.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1unspecified1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024