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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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001573371Ocular Genomics Institute, Massachusetts Eye and Ear
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Apr 8, 2021)
germlineresearch

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

SCV004180039Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Apr 11, 2023)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch
not providedgermlinenonot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch 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.

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

From Genome-Nilou Lab, SCV004180039.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024