NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) 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:: RCV001376283.2

Allele description [Variation Report for NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)]

NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)

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.2308G>A (p.Gly770Ser)

HGVS:

NC_000001.11:g.197427633G>A
NG_008483.2:g.231172G>A
NM_001193640.2:c.1972G>A
NM_001257965.2:c.2101G>A
NM_001257966.2:c.2128+5677G>A
NM_201253.3:c.2308G>AMANE SELECT
NP_001180569.1:p.Gly658Ser
NP_001244894.1:p.Gly701Ser
NP_957705.1:p.Gly770Ser
NC_000001.10:g.197396763G>A
NM_001257965.2:c.2101G>A
NM_201253.2:c.2308G>A
NR_047563.2:n.2261G>A
NR_047564.2:n.2469G>A

Protein change:

G658S

Links:

dbSNP: rs767648174

NCBI 1000 Genomes Browser:

rs767648174

Molecular consequence:

NM_001257966.2:c.2128+5677G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001193640.2:c.1972G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001257965.2:c.2101G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201253.3:c.2308G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_047563.2:n.2261G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_047564.2:n.2469G>A - 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
SCV001573371	Ocular Genomics Institute, Massachusetts Eye and Ear	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 8, 2021)	germline	research	PubMed (5) [See all records that cite these PMIDs] 30576320, 28559085, 27208204, 27113771, 25741868
SCV004180039	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

SCV001573371

Ocular Genomics Institute, Massachusetts Eye and Ear

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 8, 2021)

germline

research

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

SCV004180039

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	research
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

Weisschuh N, Feldhaus B, Khan MI, Cremers FPM, Kohl S, Wissinger B, Zobor D.

PLoS One. 2018;13(12):e0205380. doi: 10.1371/journal.pone.0205380.

PubMed [citation]

PMID:: 30576320
PMCID:: PMC6303042

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.

Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, Braun TA, Mullins RF, Scheetz TE, Sheffield VC, Tucker BA.

Ophthalmology. 2017 Sep;124(9):1314-1331. doi: 10.1016/j.ophtha.2017.04.008. Epub 2017 May 27.

PubMed [citation]

PMID:: 28559085
PMCID:: PMC5565704

See all PubMed Citations (5)

Details of each submission

From Ocular Genomics Institute, Massachusetts Eye and Ear, SCV001573371.1

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

Description

The CRB1 c.2308G>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PP3, PM1, PM3-S. Based on this evidence we have classified this variant as Likely Pathogenic.

#	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, SCV004180039.1

#	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: Oct 26, 2024

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