NM_201253.3(CRB1):c.1733T>A (p.Val578Glu) AND Retinitis pigmentosa 12

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 8, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001376464.1

Allele description [Variation Report for NM_201253.3(CRB1):c.1733T>A (p.Val578Glu)]

NM_201253.3(CRB1):c.1733T>A (p.Val578Glu)

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.1733T>A (p.Val578Glu)

HGVS:

NC_000001.11:g.197421561T>A
NG_008483.2:g.225100T>A
NM_001193640.2:c.1397T>A
NM_001257965.2:c.1526T>A
NM_001257966.2:c.1733T>A
NM_201253.3:c.1733T>AMANE SELECT
NP_001180569.1:p.Val466Glu
NP_001244894.1:p.Val509Glu
NP_001244895.1:p.Val578Glu
NP_957705.1:p.Val578Glu
NC_000001.10:g.197390691T>A
NC_000001.10:g.197390691T>A
NM_201253.2:c.1733T>A
NR_047564.2:n.1894T>A

Protein change:

V466E

Links:

dbSNP: rs1266363944

NCBI 1000 Genomes Browser:

rs1266363944

Molecular consequence:

NM_001193640.2:c.1397T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001257965.2:c.1526T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001257966.2:c.1733T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201253.3:c.1733T>A - missense variant - [Sequence Ontology: SO:0001583]
NR_047564.2:n.1894T>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
SCV001573613	Ocular Genomics Institute, Massachusetts Eye and Ear	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 8, 2021)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001573613

Ocular Genomics Institute, Massachusetts Eye and Ear

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 8, 2021)

germline

research

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

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 Ocular Genomics Institute, Massachusetts Eye and Ear, SCV001573613.1

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

Description

The CRB1 c.1733T>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: PM3, PM2. Based on this evidence we have classified this variant as Variant of Uncertain Significance.

#	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: Mar 5, 2024

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