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NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) AND Patterned dystrophy of the retinal pigment epithelium

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 7, 2020
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:
RCV001250376.1

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:
Patterned dystrophy of the retinal pigment epithelium (MDPT1)
Identifiers:
MONDO: MONDO:0018973; MedGen: C1868569

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001424711NEI Ophthalmic Genomics Laboratory, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Jan 7, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot 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 NEI Ophthalmic Genomics Laboratory, National Institutes of Health, SCV001424711.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The variant NM_000322.4:c.647C>T in the PRPH2 gene has been previously studied(PMIDs 1684223, 12925772, 28559085). We found this variant in 3 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (rs61755806,CM910324). It is present in gnomAD browser (AF 0.00000406). It is enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PS4, PP1-M, PM1, PM2, PM3, PM5, PP3, PP5] and classified NM_000322.4:c.647C>T in the PRPH2 gene as a Pathogenic mutation.

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

Last Updated: Jul 15, 2024