NM_201253.3(CRB1):c.57dup (p.Ile20fs) AND Leber congenital amaurosis 8

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Mar 24, 2024
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:: RCV001250580.5

Allele description [Variation Report for NM_201253.3(CRB1):c.57dup (p.Ile20fs)]

NM_201253.3(CRB1):c.57dup (p.Ile20fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

1q31.3

Genomic location:

Preferred name:

NM_201253.3(CRB1):c.57dup (p.Ile20fs)

HGVS:

NC_000001.11:g.197268469dup
NG_008483.2:g.72008dup
NM_001193640.2:c.57dup
NM_001257965.2:c.-212-33971dup
NM_001257966.2:c.57dup
NM_201253.3:c.57dupMANE SELECT
NP_001180569.1:p.Ile20fs
NP_001244895.1:p.Ile20fs
NP_957705.1:p.Ile20fs
NC_000001.10:g.197237597_197237598insT
NC_000001.10:g.197237599dup
NM_201253.2:c.57dup
NM_201253.2:c.57dupT
NR_047563.2:n.218dup
NR_047564.2:n.218dup

Protein change:

I20fs

Links:

dbSNP: rs1343680080

NCBI 1000 Genomes Browser:

rs1343680080

Molecular consequence:

NM_001193640.2:c.57dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001257966.2:c.57dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_201253.3:c.57dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001257965.2:c.-212-33971dup - intron variant - [Sequence Ontology: SO:0001627]
NR_047563.2:n.218dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_047564.2:n.218dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Leber congenital amaurosis 8 (LCA8)
Identifiers:: MONDO: MONDO:0013453; MedGen: C3151202; Orphanet: 65; OMIM: 613835

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001425447	Laboratory of Genetics in Ophthalmology, Institut Imagine	no assertion criteria provided	Pathogenic	maternal	research	PubMed (1) [See all records that cite this PMID]
SCV004178792	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 11, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004211202	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 24, 2024)	unknown	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

SCV001425447

Laboratory of Genetics in Ophthalmology, Institut Imagine

no assertion criteria provided

Pathogenic

maternal

research

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

SCV004178792

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 11, 2023)

germline

clinical testing

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

SCV004211202

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 24, 2024)

unknown

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	unknown	unknown	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
not provided	maternal	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.

Stone EM.

Am J Ophthalmol. 2007 Dec;144(6):791-811. Epub 2007 Oct 26.

PubMed [citation]

PMID:: 17964524

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 Laboratory of Genetics in Ophthalmology, Institut Imagine, SCV001425447.1

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

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

From Genome-Nilou Lab, SCV004178792.1

#	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

From Baylor Genetics, SCV004211202.2

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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