NM_006343.3(MERTK):c.2323C>T (p.Arg775Ter) AND Autosomal recessive retinitis pigmentosa

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 23, 2018
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:: RCV001257797.1

Allele description [Variation Report for NM_006343.3(MERTK):c.2323C>T (p.Arg775Ter)]

NM_006343.3(MERTK):c.2323C>T (p.Arg775Ter)

Gene:

MERTK:MER proto-oncogene, tyrosine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q13

Genomic location:

Preferred name:

NM_006343.3(MERTK):c.2323C>T (p.Arg775Ter)

HGVS:

NC_000002.12:g.112021555C>T
NG_011607.1:g.127942C>T
NM_006343.3:c.2323C>TMANE SELECT
NP_006334.2:p.Arg775Ter
NC_000002.11:g.112779132C>T
NM_006343.2:c.2323C>T
p.(Arg775*)

Protein change:

R775*; ARG775TER

Links:

OMIM: 604705.0008; dbSNP: rs387907314

NCBI 1000 Genomes Browser:

rs387907314

Molecular consequence:

NM_006343.3:c.2323C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Autosomal recessive retinitis pigmentosa
Identifiers:: MedGen: C0339526

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001434675	Faculty of Health Sciences, Beirut Arab University	no assertion criteria provided	Pathogenic (May 23, 2018)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 29659094, 22180149

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001434675

Faculty of Health Sciences, Beirut Arab University

no assertion criteria provided

Pathogenic
(May 23, 2018)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Arab	germline	yes	5	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

MERTK mutation update in inherited retinal diseases.

Audo I, Mohand-Said S, Boulanger-Scemama E, Zanlonghi X, Condroyer C, Démontant V, Boyard F, Antonio A, Méjécase C, El Shamieh S, Sahel JA, Zeitz C.

Hum Mutat. 2018 Jul;39(7):887-913. doi: 10.1002/humu.23431. Epub 2018 May 23. Review.

PubMed [citation]

PMID:: 29659094

Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.

Ksantini M, Lafont E, Bocquet B, Meunier I, Hamel CP.

Eur J Ophthalmol. 2012 Jul-Aug;22(4):647-53. doi: 10.5301/ejo.5000096.

PubMed [citation]

PMID:: 22180149

Details of each submission

From Faculty of Health Sciences, Beirut Arab University, SCV001434675.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Arab	3	not provided	not provided	literature only	PubMed (2)
2	Arab	2	not provided	not provided	literature only	PubMed (2)

#	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		3	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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