NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 23, 2022
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:: RCV001049512.6

Allele description [Variation Report for NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter)]

NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter)

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.2164C>T (p.Arg722Ter)

HGVS:

NC_000002.12:g.112019497C>T
NG_011607.1:g.125884C>T
NM_006343.3:c.2164C>TMANE SELECT
NP_006334.2:p.Arg722Ter
NC_000002.11:g.112777074C>T
NM_006343.2:c.2164C>T

Protein change:

R722*

Links:

dbSNP: rs541717028

NCBI 1000 Genomes Browser:

rs541717028

Molecular consequence:

NM_006343.3:c.2164C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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tinoridine [Supplementary Concept]
tinoridine [Supplementary Concept]
proposed anti-inflammatory agent; minor descriptor (75-86); on-line & INDEX MEDICUS seach PYRIDINES (75-86)<br/>Date introduced: August 7, 1986<br/>

MeSH
C100290 (1)
MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001213562	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 23, 2022)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 15111602, 25097241, 28041643, 24265693, 29659094, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001213562

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 23, 2022)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

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

Citations

PubMed

MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells.

McHenry CL, Liu Y, Feng W, Nair AR, Feathers KL, Ding X, Gal A, Vollrath D, Sieving PA, Thompson DA.

Invest Ophthalmol Vis Sci. 2004 May;45(5):1456-63.

PubMed [citation]

PMID:: 15111602

Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

Wang J, Zhang VW, Feng Y, Tian X, Li FY, Truong C, Wang G, Chiang PW, Lewis RA, Wong LJ.

Invest Ophthalmol Vis Sci. 2014 Aug 5;55(10):6213-23. doi: 10.1167/iovs.14-14936.

PubMed [citation]

PMID:: 25097241

See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001213562.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 437995). This premature translational stop signal has been observed in individuals with autosomal recessive retinitis pigmentosa (PMID: 15111602, 25097241, 28041643). This variant is present in population databases (rs541717028, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Arg722*) in the MERTK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MERTK are known to be pathogenic (PMID: 24265693, 29659094).

#	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: Nov 10, 2024

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