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NM_152443.3(RDH12):c.667G>T (p.Val223Phe) AND Retinal dystrophy

Germline classification:
Uncertain significance (1 submission)
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:
RCV001591833.1

Allele description [Variation Report for NM_152443.3(RDH12):c.667G>T (p.Val223Phe)]

NM_152443.3(RDH12):c.667G>T (p.Val223Phe)

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.667G>T (p.Val223Phe)
HGVS:
  • NC_000014.9:g.67729199G>T
  • NG_008321.1:g.32314G>T
  • NM_152443.3:c.667G>TMANE SELECT
  • NP_689656.2:p.Val223Phe
  • NC_000014.8:g.68195916G>T
Protein change:
V223F
Links:
dbSNP: rs370015375
NCBI 1000 Genomes Browser:
rs370015375
Molecular consequence:
  • NM_152443.3:c.667G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001815947DBGen Ocular Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 21, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
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 DBGen Ocular Genomics, SCV001815947.1

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

Last Updated: Dec 24, 2023