NM_201253.3(CRB1):c.997G>C (p.Gly333Arg) AND Retinitis pigmentosa 12

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Apr 11, 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:: RCV001733784.5

Allele description [Variation Report for NM_201253.3(CRB1):c.997G>C (p.Gly333Arg)]

NM_201253.3(CRB1):c.997G>C (p.Gly333Arg)

Gene:

CRB1:crumbs cell polarity complex component 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

Preferred name:

NM_201253.3(CRB1):c.997G>C (p.Gly333Arg)

HGVS:

NC_000001.11:g.197356839G>C
NG_008483.2:g.160378G>C
NM_001193640.2:c.661G>C
NM_001257965.2:c.790G>C
NM_001257966.2:c.997G>C
NM_201253.3:c.997G>CMANE SELECT
NP_001180569.1:p.Gly221Arg
NP_001244894.1:p.Gly264Arg
NP_001244895.1:p.Gly333Arg
NP_957705.1:p.Gly333Arg
NC_000001.10:g.197325969G>C
NM_201253.2:c.997G>C
NR_047563.2:n.1158G>C
NR_047564.2:n.1158G>C

Protein change:

G221R

Links:

dbSNP: rs778232235

NCBI 1000 Genomes Browser:

rs778232235

Molecular consequence:

NM_001193640.2:c.661G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001257965.2:c.790G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001257966.2:c.997G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_201253.3:c.997G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_047563.2:n.1158G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_047564.2:n.1158G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Retinitis pigmentosa 12 (RP12)
Synonyms:: RP 12; RP WITH OR WITHOUT PPRPE; RP WITH OR WITHOUT PRESERVED PARAARTERIOLE RETINAL PIGMENT EPITHELIUM; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010818; MedGen: C1838647; Orphanet: 791; OMIM: 600105

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001984704	Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 7, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004178878	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 11, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001984704

Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 7, 2020)

germline

clinical testing

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

SCV004178878

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 11, 2023)

germline

clinical testing

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

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	no	not provided	not provided	not provided	not provided	not provided	clinical 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 Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital, SCV001984704.1

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

From Genome-Nilou Lab, SCV004178878.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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