NM_201253.3(CRB1):c.1426del (p.Thr476fs) AND Leber congenital amaurosis 8

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 25, 2023
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:: RCV003475753.1

Allele description [Variation Report for NM_201253.3(CRB1):c.1426del (p.Thr476fs)]

NM_201253.3(CRB1):c.1426del (p.Thr476fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1q31.3

Genomic location:

Preferred name:

NM_201253.3(CRB1):c.1426del (p.Thr476fs)

HGVS:

NC_000001.11:g.197421254del
NG_008483.2:g.224793del
NG_008483.3:g.224752del
NM_001193640.2:c.1090del
NM_001257965.2:c.1219del
NM_001257966.2:c.1426del
NM_201253.3:c.1426delMANE SELECT
NP_001180569.1:p.Thr364fs
NP_001244894.1:p.Thr407fs
NP_001244895.1:p.Thr476fs
NP_957705.1:p.Thr476fs
NC_000001.10:g.197390384del
NR_047563.2:n.1587del
NR_047564.2:n.1587del

Protein change:

T364fs

Molecular consequence:

NM_001193640.2:c.1090del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001257965.2:c.1219del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001257966.2:c.1426del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_201253.3:c.1426del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_047563.2:n.1587del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_047564.2:n.1587del - 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
SCV004211151	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 25, 2023)	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

SCV004211151

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 25, 2023)

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

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 Baylor Genetics, SCV004211151.1

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

Last Updated: Dec 30, 2023

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