NM_006343.3(MERTK):c.992_993del (p.Ser331fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 13, 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:: RCV001858654.4

Allele description [Variation Report for NM_006343.3(MERTK):c.992_993del (p.Ser331fs)]

NM_006343.3(MERTK):c.992_993del (p.Ser331fs)

Genes:

MERTK:MER proto-oncogene, tyrosine kinase [Gene - OMIM - HGNC]
LOC112806037:Sharpr-MPRA regulatory region 3720 [Gene]

Variant type:

Deletion

Cytogenetic location:

2q13

Genomic location:

Preferred name:

NM_006343.3(MERTK):c.992_993del (p.Ser331fs)

HGVS:

NC_000002.12:g.111975320_111975321del
NG_011607.1:g.81707_81708del
NG_060893.1:g.229_230del
NM_006343.2:c.992_993delCA
NM_006343.3:c.992_993delMANE SELECT
NP_006334.2:p.Ser331fs
NC_000002.11:g.112732897_112732898del
NC_000002.11:g.112732897_112732898del
NC_000002.11:g.112732897_112732898delCA

Protein change:

S331fs

Links:

dbSNP: rs1573613491

NCBI 1000 Genomes Browser:

rs1573613491

Molecular consequence:

NM_006343.3:c.992_993del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Nucleocytoplasmic transport molecules that bind to ALPHA KARYOPHERINS in the CYTOSOL and are involved in transport of molecules through the NUCLEAR PORE COMPLEX. Once inside t...<br/>Year introduced: 2002

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002245586	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 13, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 26263531, 24265693, 29659094, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002245586

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 13, 2022)

germline

clinical testing

PubMed (4)
[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

Human iPSC derived disease model of MERTK-associated retinitis pigmentosa.

Lukovic D, Artero Castro A, Delgado AB, Bernal Mde L, Luna Pelaez N, Díez Lloret A, Perez Espejo R, Kamenarova K, Fernández Sánchez L, Cuenca N, Cortón M, Avila Fernandez A, Sorkio A, Skottman H, Ayuso C, Erceg S, Bhattacharya SS.

Sci Rep. 2015 Aug 11;5:12910. doi: 10.1038/srep12910.

PubMed [citation]

PMID:: 26263531
PMCID:: PMC4531787

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG, Baig SM, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Ghaffari SR, Rafati M, Botzenhart E, Tinschert S, Börger D, Bohring A, et al.

PLoS One. 2013;8(11):e78496. doi: 10.1371/journal.pone.0078496. Erratum in: PLoS One. 2014;9(11):e108840.

PubMed [citation]

PMID:: 24265693
PMCID:: PMC3827063

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002245586.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This premature translational stop signal has been observed in individual(s) with autosomal recessive retinitis pigmentosa (PMID: 26263531). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 801735). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser331Cysfs*5) 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: Sep 29, 2024

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