VCV000013170.43 - ClinVar

NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(18)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Pathogenic/Likely pathogenic

criteria provided, multiple submitters, no conflicts

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)

Variation ID: 13170 Accession: VCV000013170.43

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 6p21.1 6: 42721821 (GRCh38) [ NCBI UCSC ] 6: 42689559 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Feb 20, 2014	Oct 20, 2024	Dec 11, 2023

HGVS

Nucleotide	Protein	Molecular consequence
NM_000322.5:c.514C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000313.2:p.Arg172Trp	missense
NC_000006.12:g.42721821G>A
NC_000006.11:g.42689559G>A
NG_009176.2:g.5800C>T

Protein change

R172W

Other names

Canonical SPDI

NC_000006.12:42721820:G:A

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA122936 OMIM: 179605.0007 dbSNP: rs61755792 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
PRPH2		-	-	GRCh38 GRCh37	751	763

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Choroidal dystrophy, central areolar 2	Pathogenic (1)	no assertion criteria provided	Jan 1, 1998	RCV000014056.27
not provided	Pathogenic (7)	criteria provided, multiple submitters, no conflicts	May 30, 2023	RCV000084981.31
PRPH2-related disorder	Pathogenic (1)	criteria provided, single submitter	Dec 11, 2023	RCV001049315.8
maculopathy	Likely pathogenic (1)	no assertion criteria provided	Jun 23, 2019	RCV001003147.3
Retinitis pigmentosa	Pathogenic (1)	criteria provided, single submitter	Jan 7, 2020	RCV001250348.3
Patterned dystrophy of the retinal pigment epithelium	Pathogenic (1)	criteria provided, single submitter	Jan 7, 2020	RCV001250349.3
Vitelliform macular dystrophy 2	Pathogenic (1)	criteria provided, single submitter	Jan 7, 2020	RCV001250351.3
Cone-rod dystrophy	Pathogenic (1)	criteria provided, single submitter	Jan 7, 2020	RCV001250350.3
Stargardt disease	Pathogenic (1)	criteria provided, single submitter	Jan 7, 2020	RCV001250352.3
Patterned macular dystrophy 1	Likely pathogenic (1)	criteria provided, single submitter	Jan 30, 2021	RCV001352972.3
Retinitis pigmentosa 7	Pathogenic (1)	criteria provided, single submitter	Oct 8, 2021	RCV002466402.3
Retinal dystrophy	Pathogenic (1)	criteria provided, single submitter	Oct 1, 2023	RCV003887869.1
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Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Jan 07, 2020)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Retinitis pigmentosa Affected status: yes Allele origin: germline	NEI Ophthalmic Genomics Laboratory, National Institutes of Health Accession: SCV001424668.1 First in ClinVar: Jul 26, 2020 Last updated: Jul 26, 2020	Comment: The variant NM_000322.4:c.514C>T in the PRPH2 gene has been previously studied(Nichols (1993) Invest Ophthalmol Vis Sci 34 1149). We found this variant in 13 patient(s) … (more) The variant NM_000322.4:c.514C>T in the PRPH2 gene has been previously studied(Nichols (1993) Invest Ophthalmol Vis Sci 34 1149). We found this variant in 13 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (rs61755792,CM930639). It is absent in gnomAD browser. It is enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PS4, PP1-S, PM1, PM2, PP3, PP5] and classified NM_000322.4:c.514C>T in the PRPH2 gene as a Pathogenic mutation. (less)
Pathogenic (Jan 07, 2020)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Cone-rod dystrophy Affected status: yes Allele origin: germline	NEI Ophthalmic Genomics Laboratory, National Institutes of Health Accession: SCV001424670.1 First in ClinVar: Jul 26, 2020 Last updated: Jul 26, 2020	Comment: The variant NM_000322.4:c.514C>T in the PRPH2 gene has been previously studied(Nichols (1993) Invest Ophthalmol Vis Sci 34 1149). We found this variant in 13 patient(s) … (more) The variant NM_000322.4:c.514C>T in the PRPH2 gene has been previously studied(Nichols (1993) Invest Ophthalmol Vis Sci 34 1149). We found this variant in 13 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (rs61755792,CM930639). It is absent in gnomAD browser. It is enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PS4, PP1-S, PM1, PM2, PP3, PP5] and classified NM_000322.4:c.514C>T in the PRPH2 gene as a Pathogenic mutation. (less)
Pathogenic (Jan 07, 2020)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Patterned dystrophy of the retinal pigment epithelium Affected status: yes Allele origin: germline	NEI Ophthalmic Genomics Laboratory, National Institutes of Health Accession: SCV001424669.1 First in ClinVar: Jul 26, 2020 Last updated: Jul 26, 2020	Comment: The variant NM_000322.4:c.514C>T in the PRPH2 gene has been previously studied(Nichols (1993) Invest Ophthalmol Vis Sci 34 1149). We found this variant in 13 patient(s) … (more) The variant NM_000322.4:c.514C>T in the PRPH2 gene has been previously studied(Nichols (1993) Invest Ophthalmol Vis Sci 34 1149). We found this variant in 13 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (rs61755792,CM930639). It is absent in gnomAD browser. It is enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PS4, PP1-S, PM1, PM2, PP3, PP5] and classified NM_000322.4:c.514C>T in the PRPH2 gene as a Pathogenic mutation. (less)
Pathogenic (Jan 07, 2020)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Vitelliform macular dystrophy 2 Affected status: yes Allele origin: germline	NEI Ophthalmic Genomics Laboratory, National Institutes of Health Accession: SCV001424672.1 First in ClinVar: Jul 26, 2020 Last updated: Jul 26, 2020	Comment: The variant NM_000322.4:c.514C>T in the PRPH2 gene has been previously studied(Nichols (1993) Invest Ophthalmol Vis Sci 34 1149). We found this variant in 13 patient(s) … (more) The variant NM_000322.4:c.514C>T in the PRPH2 gene has been previously studied(Nichols (1993) Invest Ophthalmol Vis Sci 34 1149). We found this variant in 13 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (rs61755792,CM930639). It is absent in gnomAD browser. It is enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PS4, PP1-S, PM1, PM2, PP3, PP5] and classified NM_000322.4:c.514C>T in the PRPH2 gene as a Pathogenic mutation. (less)
Pathogenic (Jan 07, 2020)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Stargardt disease Affected status: yes Allele origin: germline	NEI Ophthalmic Genomics Laboratory, National Institutes of Health Accession: SCV001424673.1 First in ClinVar: Jul 26, 2020 Last updated: Jul 26, 2020	Comment: The variant NM_000322.4:c.514C>T in the PRPH2 gene has been previously studied(Nichols (1993) Invest Ophthalmol Vis Sci 34 1149). We found this variant in 13 patient(s) … (more) The variant NM_000322.4:c.514C>T in the PRPH2 gene has been previously studied(Nichols (1993) Invest Ophthalmol Vis Sci 34 1149). We found this variant in 13 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (rs61755792,CM930639). It is absent in gnomAD browser. It is enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PS4, PP1-S, PM1, PM2, PP3, PP5] and classified NM_000322.4:c.514C>T in the PRPH2 gene as a Pathogenic mutation. (less)
Likely pathogenic (Jan 30, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Patterned macular dystrophy 1 Affected status: yes Allele origin: germline	Institute of Medical Molecular Genetics, University of Zurich Accession: SCV001548052.1 First in ClinVar: Mar 28, 2021 Last updated: Mar 28, 2021	Publications: PubMed (1) PubMed: 33546218 Method: long-range PCR
Pathogenic (Oct 08, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Retinitis pigmentosa 7 Affected status: yes Allele origin: germline	Genetics and Molecular Pathology, SA Pathology Additional submitter: Shariant Australia, Australian Genomics Accession: SCV002761618.1 First in ClinVar: Dec 17, 2022 Last updated: Dec 17, 2022
Pathogenic (May 30, 2023)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV003930252.1 First in ClinVar: Jun 10, 2023 Last updated: Jun 10, 2023	Comment: Reported as a common pathogenic variant among individuals of British background (Payne et al., 1998); Published functional studies in mice demonstrate a damaging effect with … (more) Reported as a common pathogenic variant among individuals of British background (Payne et al., 1998); Published functional studies in mice demonstrate a damaging effect with defective cone photoreceptors and abnormal PRPH2(RDS)/ROM-1 complex formation (Ding et al., 2004; Conley et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21405999, 8747448, 20335603, 32531858, 18055786, 34828423, 10800708, 24463884, 9010868, 8943002, 24608669, 8302543, 8015786, 29343940, 8485576, 7493155, 22183351, 29555955, 19279306, 28838317, 31456290, 32531846, 32036094, 9810570, 33691693, 26667666, 15254014, 9443872, 34411390, 10532447) (less)
Pathogenic (Dec 11, 2023)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	PRPH2-related disorder Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV001213360.5 First in ClinVar: Apr 15, 2020 Last updated: Feb 14, 2024	Publications: PubMed (3) PubMed: 8485576‚ 8747448‚ 24463884 Comment: This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 172 of the PRPH2 protein … (more) This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 172 of the PRPH2 protein (p.Arg172Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant macular dystrophy (PMID: 8485576, 8747448). It has also been observed to segregate with disease in related individuals. This variant is also known as RDS p.Arg172Trp. ClinVar contains an entry for this variant (Variation ID: 13170). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PRPH2 protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects PRPH2 function (PMID: 24463884). For these reasons, this variant has been classified as Pathogenic. (less)
Pathogenic (Oct 01, 2023)	criteria provided, single submitter (Submitter's publication) Method: research	Retinal dystrophy Affected status: yes Allele origin: germline	Dept Of Ophthalmology, Nagoya University Accession: SCV004707350.1 First in ClinVar: Mar 10, 2024 Last updated: Mar 10, 2024
Pathogenic (Dec 01, 2018)	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2) Method: clinical testing	not provided Affected status: yes Allele origin: germline	CeGaT Center for Human Genetics Tuebingen Accession: SCV001246205.26 First in ClinVar: May 12, 2020 Last updated: Oct 20, 2024	Number of individuals with the variant: 2
Pathogenic (Oct 23, 2020)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not provided (Autosomal unknown) Affected status: yes Allele origin: germline	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen Accession: SCV001447838.1 First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020	Clinical Features: Macular dystrophy (present) Sex: female
Pathogenic (Jan 01, 1998)	no assertion criteria provided Method: literature only	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 2 Affected status: not provided Allele origin: germline	OMIM Accession: SCV000034303.2 First in ClinVar: Apr 04, 2013 Last updated: Dec 25, 2014	Publications: PubMed (6) PubMed: 8485576‚ 8302543‚ 7493155‚ 9010868‚ 9443872‚ 8015786 Comment on evidence: In affected members of 2 families segregating autosomal dominant macular dystrophy affecting the central retina (CACD2; 613105), Wells et al. (1993) identified heterozygosity for a … (more) In affected members of 2 families segregating autosomal dominant macular dystrophy affecting the central retina (CACD2; 613105), Wells et al. (1993) identified heterozygosity for a C-to-T transition in the PRPH2 gene resulting in an arg172-to-trp (R172W) substitution. Typically, affected persons became symptomatic in the third decade with blurred central vision and photophobia; none complained of night blindness or restricted peripheral visual fields. By 40 years of age, visual acuity was less than 6/60, and funduscopic examination showed sharply demarcated atrophy of the central retina, pigment epithelium, and choriocapillaris. Wroblewski et al. (1994) described in greater detail the clinical, psychophysical, and ERG findings in the 2 families described by Wells et al. (1993). All affected members of these families had a progressive symmetric macular dystrophy. Symptoms of progressive central visual loss developed in the third or fourth decade of life, accompanied by central scotoma and well-demarcated atrophy of the retinal pigment epithelium and choriocapillaris of the macula. Studies revealed evidence of primary cone dysfunction and preservation of peripheral rod function. Reig et al. (1995) identified the R172W mutation in a Spanish family with central areolar choroidal dystrophy. The mutation was also detected in 2 asymptomatic family members who showed irregular pigmentation in the retinal pigment epithelium. Piguet et al. (1996) analyzed the PRPH2, rhodopsin (180380), and TIMP3 (188826) genes in a large Swiss pedigree segregating autosomal dominant progressive macular dystrophy and identified heterozygosity for the PRPH2 R172W mutation in affected individuals. Payne et al. (1998) identified the R172W mutation in 11 British families segregating autosomal dominant macular dystrophies, including 2 previously reported families (Wells et al., 1993 and Chopdar, 1993, respectively). Analysis of microsatellite markers revealed a shared haplotype that was absent in 50 population-matched controls, suggesting a founder effect. Although the families had been referred separately with a variety of diagnoses, Payne et al. (1998) stated that review of the clinical data indicated a common phenotype involving significant loss of central vision, with a distinctive retinal appearance. (less)
Likely pathogenic (Jun 23, 2019)	no assertion criteria provided Method: research	Maculopathy Affected status: yes Allele origin: inherited	Sharon lab, Hadassah-Hebrew University Medical Center Accession: SCV001161216.1 First in ClinVar: Feb 16, 2020 Last updated: Feb 16, 2020
Pathogenic (Apr 27, 2021)	no assertion criteria provided Method: curation	not provided Affected status: yes Allele origin: germline	Leiden Open Variation Database Accession: SCV001744958.1 First in ClinVar: Jul 07, 2021 Last updated: Jul 07, 2021	Publications: PubMed (29) PubMed: 7493155‚ 8302543‚ 8485576‚ 8747448‚ 8994365‚ 9279751‚ 9443872‚ 10193525‚ 10532447‚ 11139241‚ 16019073‚ 17653047‚ 19038374‚ 19262438‚ 20640437‚ 21071739‚ 22863181‚ 24608669‚ 25082885‚ 25803555‚ 26103963‚ 26667666‚ 28838317‚ 29343940‚ 29555955‚ 31213501‚ 31456290‚ 31574917‚ 32531846 Comment: Curator: Global Variome, with Curator vacancy. Submitters to LOVD: Global Variome, with Curator vacancy, IMGAG, Julia Lopez, LOVD, Manon Peeters, Yoshito Koyanagi.
Pathogenic (-)	no assertion criteria provided Method: clinical testing	not provided Affected status: yes Allele origin: germline	Clinical Genetics, Academic Medical Center Additional submitter: Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV001922523.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021
Pathogenic (-)	no assertion criteria provided Method: clinical testing	not provided Affected status: yes Allele origin: germline	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ Additional submitter: Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV001952194.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021
not provided (-)	no classification provided Method: not provided	not provided Affected status: not provided Allele origin: not provided	Retina International Accession: SCV000117117.1 First in ClinVar: Feb 20, 2014 Last updated: Feb 20, 2014 Comment: http://phencode.bx.psu.edu/cgi-bin/phencode/phencode?build=hg19&id=RISN_RDS:c.514C>T
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Comment:

The variant NM_000322.4:c.514C>T in the PRPH2 gene has been previously studied(Nichols (1993) Invest Ophthalmol Vis Sci 34 1149). We found this variant in 13 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (rs61755792,CM930639). It is absent in gnomAD browser. It is enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PS4, PP1-S, PM1, PM2, PP3, PP5] and classified NM_000322.4:c.514C>T in the PRPH2 gene as a Pathogenic mutation.

Comment:

Reported as a common pathogenic variant among individuals of British background (Payne et al., 1998); Published functional studies in mice demonstrate a damaging effect with defective cone photoreceptors and abnormal PRPH2(RDS)/ROM-1 complex formation (Ding et al., 2004; Conley et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21405999, 8747448, 20335603, 32531858, 18055786, 34828423, 10800708, 24463884, 9010868, 8943002, 24608669, 8302543, 8015786, 29343940, 8485576, 7493155, 22183351, 29555955, 19279306, 28838317, 31456290, 32531846, 32036094, 9810570, 33691693, 26667666, 15254014, 9443872, 34411390, 10532447)

Comment:

This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 172 of the PRPH2 protein (p.Arg172Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant macular dystrophy (PMID: 8485576, 8747448). It has also been observed to segregate with disease in related individuals. This variant is also known as RDS p.Arg172Trp. ClinVar contains an entry for this variant (Variation ID: 13170). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PRPH2 protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects PRPH2 function (PMID: 24463884). For these reasons, this variant has been classified as Pathogenic.

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.	Maggi J	International journal of molecular sciences	2021	PMID: 33546218
Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.	Reeves MJ	Human mutation	2020	PMID: 32531846
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).	Sharon D	Human mutation	2020	PMID: 31456290
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.	Boulanger-Scemama E	International journal of molecular sciences	2019	PMID: 31574917
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.	Koyanagi Y	Journal of medical genetics	2019	PMID: 31213501
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.	Birtel J	Scientific reports	2018	PMID: 29555955
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.	Bryant L	Clinical ophthalmology (Auckland, N.Z.)	2017	PMID: 29343940
Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.	Wang X	BMC ophthalmology	2017	PMID: 28838317
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.	Ge Z	Scientific reports	2015	PMID: 26667666
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.	Boulanger-Scemama E	Orphanet journal of rare diseases	2015	PMID: 26103963
[Genotype-phenotype correlation in patients with PRPH2-mutations].	Maertz J	Klinische Monatsblatter fur Augenheilkunde	2015	PMID: 25803555
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.	Alapati A	Investigative ophthalmology & visual science	2014	PMID: 25082885
Prph2 mutations as a cause of electronegative ERG.	Ba-Abbad R	Retina (Philadelphia, Pa.)	2014	PMID: 24608669
Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS.	Conley SM	Human molecular genetics	2014	PMID: 24463884
Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.	Strom SP	BMC medical genetics	2012	PMID: 22863181
Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene.	Duncan JL	Investigative ophthalmology & visual science	2011	PMID: 21071739
Choroidal imaging in inherited retinal disease using the technique of enhanced depth imaging optical coherence tomography.	Yeoh J	Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie	2010	PMID: 20640437
Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation.	Anand S	Retina (Philadelphia, Pa.)	2009	PMID: 19262438
Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.	Renner AB	American journal of ophthalmology	2009	PMID: 19038374
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.	Gamundi MJ	Molecular vision	2007	PMID: 17653047
Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.	Michaelides M	Ophthalmology	2005	PMID: 16019073
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.	Sohocki MM	Human mutation	2001	PMID: 11139241
Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families.	Downes SM	Archives of ophthalmology (Chicago, Ill. : 1960)	1999	PMID: 10532447
Detection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system.	Ekström U	Molecular pathology : MP	1998	PMID: 10193525
Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene.	Payne AM	American journal of human genetics	1998	PMID: 9443872
RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.	Kohl S	Journal of medical genetics	1997	PMID: 9279751
Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene.	Piguet B	Ophthalmic genetics	1996	PMID: 9010868
Preferential rod and cone photoreceptor abnormalities in heterozygotes with point mutations in the RDS gene.	Jacobson SG	Experimental eye research	1996	PMID: 8994365
Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin/RDS gene in a Japanese family.	Nakazawa M	Retina (Philadelphia, Pa.)	1995	PMID: 8747448
A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy.	Reig C	Ophthalmic genetics	1995	PMID: 7493155
Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene.	Wroblewski JJ	Ophthalmology	1994	PMID: 8302543
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.	Wells J	Nature genetics	1993	PMID: 8485576
A variant of central areolar choroidal dystrophy.	Chopdar A	Ophthalmic paediatrics and genetics	1993	PMID: 8015786
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Text-mined citations for rs61755792 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 10, 2024

ClinVar Genomic variation as it relates to human health

NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs61755792 ...