NM_014714.4(IFT140):c.2834T>C (p.Leu945Pro) AND Leber congenital amaurosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 16, 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:: RCV001591786.1

Allele description [Variation Report for NM_014714.4(IFT140):c.2834T>C (p.Leu945Pro)]

NM_014714.4(IFT140):c.2834T>C (p.Leu945Pro)

Genes:

LOC126862260:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:1574508-1575707 [Gene]
IFT140:intraflagellar transport 140 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_014714.4(IFT140):c.2834T>C (p.Leu945Pro)

HGVS:

NC_000016.10:g.1525261A>G
NG_032783.1:g.91848T>C
NM_014714.4:c.2834T>CMANE SELECT
NP_055529.2:p.Leu945Pro
NC_000016.9:g.1575262A>G

Protein change:

L945P

Links:

dbSNP: rs2141175065

NCBI 1000 Genomes Browser:

rs2141175065

Molecular consequence:

NM_014714.4:c.2834T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001815882	DBGen Ocular Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 16, 2021)	germline	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

SCV001815882

DBGen Ocular Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 16, 2021)

germline

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
unspecified	germline	yes	1	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 DBGen Ocular Genomics, SCV001815882.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	unspecified	1	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	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine