U.S. flag

An official website of the United States government

NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg) AND not provided

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Mar 2, 2022
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:
RCV000084997.11

Allele description [Variation Report for NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)]

NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)

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.629C>G (p.Pro210Arg)
HGVS:
  • NC_000006.12:g.42704564G>C
  • NG_009176.2:g.23057C>G
  • NM_000322.5:c.629C>GMANE SELECT
  • NP_000313.2:p.Pro210Arg
  • NC_000006.11:g.42672302G>C
  • NG_009176.1:g.23057C>G
  • NM_000322.4:c.629C>G
Protein change:
P210R; PRO210ARG
Links:
OMIM: 179605.0012; dbSNP: rs61755798
NCBI 1000 Genomes Browser:
rs61755798
Molecular consequence:
  • NM_000322.5:c.629C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000117133Retina International
no classification provided
not providednot providednot provided

SCV001745089Leiden Open Variation Database
no assertion criteria provided
Likely pathogenic
(Apr 6, 2021)
germlinecuration

PubMed (10)
[See all records that cite these PMIDs]

SCV002102623GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Pathogenic
(Mar 2, 2022)
germlineclinical testing

Citation Link

Description

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing, curation
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (Pro 210 Arg)

Feist RM, White MF Jr, Skalka H, Stone EM.

Am J Ophthalmol. 1994 Aug 15;118(2):259-60. No abstract available.

PubMed [citation]
PMID:
7519821

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.

Gorin MB, Jackson KE, Ferrell RE, Sheffield VC, Jacobson SG, Gass JD, Mitchell E, Stone EM.

Ophthalmology. 1995 Feb;102(2):246-55.

PubMed [citation]
PMID:
7862413
See all PubMed Citations (10)

Details of each submission

From Retina International, SCV000117133.1

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

From Leiden Open Variation Database, SCV001745089.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (10)

Description

Curator: Global Variome, with Curator vacancy. Submitters to LOVD: Julia Lopez, Manon Peeters.

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

From GeneDx, SCV002102623.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 7519821, 17504850, 11139241, 25082885, 16885924, 21071739, 16799052, 22863181, 7862413, 32531846)

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

Last Updated: Oct 26, 2024