NM_001012720.2(RGR):c.196A>C (p.Ser66Arg) AND not provided

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Nov 17, 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:: RCV000175649.13

Allele description [Variation Report for NM_001012720.2(RGR):c.196A>C (p.Ser66Arg)]

NM_001012720.2(RGR):c.196A>C (p.Ser66Arg)

Gene:

RGR:retinal G protein coupled receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.1

Genomic location:

Preferred name:

NM_001012720.2(RGR):c.196A>C (p.Ser66Arg)

HGVS:

NC_000010.11:g.84247707A>C
NG_009106.1:g.7655A>C
NM_001012720.2:c.196A>CMANE SELECT
NM_001012722.2:c.196A>C
NM_002921.4:c.196A>C
NP_001012738.1:p.Ser66Arg
NP_001012740.1:p.Ser66Arg
NP_002912.2:p.Ser66Arg
NP_002912.2:p.Ser66Arg
NC_000010.10:g.86007463A>C
NM_001012720.1:c.196A>C
NM_001012720.2:c.196A>C
NM_002921.3:c.196A>C

Protein change:

S66R; SER66ARG

Links:

OMIM: 600342.0001; dbSNP: rs104894187

NCBI 1000 Genomes Browser:

rs104894187

Molecular consequence:

NM_001012720.2:c.196A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001012722.2:c.196A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002921.4:c.196A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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G-protein coupled receptor 84 [Homo sapiens]
G-protein coupled receptor 84 [Homo sapiens]
gi|9966839|ref|NP_065103.1|

Protein
G-protein coupled receptor family C group 5 member D [Homo sapiens]
G-protein coupled receptor family C group 5 member D [Homo sapiens]
gi|8923705|ref|NP_061124.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000227178	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Jun 25, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV001202194	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 17, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 27623334, 30337596, 32531858, 34229535, 28492532
SCV001986231	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Sep 18, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000227178

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Jun 25, 2015)

germline

clinical testing

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

Citation Link,

SCV001202194

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 17, 2023)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV001986231

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Sep 18, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	3	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.

Morimura H, Saindelle-Ribeaudeau F, Berson EL, Dryja TP.

Nat Genet. 1999 Dec;23(4):393-4. No abstract available.

PubMed [citation]

PMID:: 10581022

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

Arno G, Hull S, Carss K, Dev-Borman A, Chakarova C, Bujakowska K, van den Born LI, Robson AG, Holder GE, Michaelides M, Cremers FP, Pierce E, Raymond FL, Moore AT, Webster AR.

Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):4806-13. doi: 10.1167/iovs.16-19687. Erratum in: Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):923. doi: 10.1167/iovs.16-19687a. van den Born, Ingeborgh [corrected to van den Born, L Ingeborgh].

PubMed [citation]

PMID:: 27623334

See all PubMed Citations (6)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000227178.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		3	not provided	not provided	not provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001202194.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 66 of the RGR protein (p.Ser66Arg). This variant is present in population databases (rs104894187, gnomAD 0.007%). This missense change has been observed in individual(s) with RGR-related conditions (PMID: 27623334, 30337596, 32531858, 34229535). ClinVar contains an entry for this variant (Variation ID: 9181). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneDx, SCV001986231.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27623334, 10581022, 21067480, 30337596)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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