NM_025114.4(CEP290):c.671C>T (p.Thr224Ile) AND Leber congenital amaurosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 17, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001279936.1

Allele description [Variation Report for NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)]

NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)

Gene:

CEP290:centrosomal protein 290 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q21.32

Genomic location:

Preferred name:

NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)

HGVS:

NC_000012.12:g.88129875G>A
NG_008417.2:g.17342C>T
NM_025114.4:c.671C>TMANE SELECT
NP_079390.3:p.Thr224Ile
LRG_694t1:c.671C>T
LRG_694:g.17342C>T
LRG_694p1:p.Thr224Ile
NC_000012.11:g.88523652G>A
NC_000012.11:g.88523652G>A
NG_008417.1:g.17342C>T
NM_025114.3:c.671C>T

Protein change:

T224I

Links:

dbSNP: rs200587974

Molecular consequence:

NM_025114.4:c.671C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Leber congenital amaurosis (LCA)
Synonyms:: Leber's amaurosis
Identifiers:: MONDO: MONDO:0018998; MeSH: D057130; MedGen: C0339527; OMIM: PS204000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001467073	Natera, Inc.	no assertion criteria provided	Uncertain significance (Apr 17, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001467073

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Apr 17, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV001467073.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Dec 14, 2025

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