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NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) AND Retinal dystrophy

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 1, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001075781.3

Allele description [Variation Report for NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)]

NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)

Gene:
PRPH2:peripherin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)
HGVS:
  • NC_000006.12:g.42704546G>A
  • NG_009176.2:g.23075C>T
  • NM_000322.5:c.647C>TMANE SELECT
  • NP_000313.2:p.Pro216Leu
  • NC_000006.11:g.42672284G>A
  • NG_009176.1:g.23075C>T
  • NM_000322.4:c.647C>T
Protein change:
P216L; PRO216LEU
Links:
OMIM: 179605.0003; dbSNP: rs61755806
NCBI 1000 Genomes Browser:
rs61755806
Molecular consequence:
  • NM_000322.5:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001241414Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)
Pathogenic
(Jul 3, 2019)
germlineclinical testing

Citation Link,

SCV004707337Dept Of Ophthalmology, Nagoya University
criteria provided, single submitter

(Submitter's publication)
Pathogenic
(Oct 1, 2023)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing, research

Details of each submission

From Blueprint Genetics, SCV001241414.1

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

From Dept Of Ophthalmology, Nagoya University, SCV004707337.1

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

Last Updated: Jul 15, 2024