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NM_001142800.2(EYS):c.2826_2827del (p.Val944fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jul 4, 2021)
Last evaluated:
Apr 8, 2021
Accession:
VCV000236446.12
Variation ID:
236446
Description:
2bp deletion
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NM_001142800.2(EYS):c.2826_2827del (p.Val944fs)

Allele ID
238031
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
6q12
Genomic location
6: 64902132-64902133 (GRCh38) GRCh38 UCSC
6: 65612025-65612026 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001142800.2:c.2826_2827delAT MANE Select
NM_001142800.1:c.2826_2827del
NC_000006.12:g.64902132_64902133del
... more HGVS
Protein change
V944fs
Other names
-
Canonical SPDI
NC_000006.12:64902131:AT:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA10581669
dbSNP: rs878853349
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Jan 29, 2020 RCV001055385.4
Pathogenic 2 criteria provided, single submitter May 16, 2017 RCV000225412.2
Pathogenic 2 criteria provided, single submitter Jun 24, 2020 RCV001249880.2
Pathogenic 1 criteria provided, single submitter Apr 8, 2021 RCV001376517.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EYS - - GRCh38
GRCh37
1823 2061

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 16, 2017)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001240042.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Pathogenic
(Jun 24, 2020)
criteria provided, single submitter
Method: research
Retinitis pigmentosa
Allele origin: inherited
INSERM U1051, Institut des Neurosciences de Montpellier
Accession: SCV001424155.1
Submitted: (Jul 13, 2020)
Evidence details
Pathogenic
(Apr 08, 2021)
criteria provided, single submitter
Method: research
Retinitis pigmentosa 25
Allele origin: germline
Ocular Genomics Institute, Massachusetts Eye and Ear
Accession: SCV001573694.1
Submitted: (Apr 26, 2021)
Evidence details
Publications
PubMed (2)
Comment:
The EYS c.2826_2827del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we … (more)
Pathogenic
(Jan 29, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001219773.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change creates a premature translational stop signal (p.Val944Glyfs*9) in the EYS gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Mar 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001248829.6
Submitted: (Jul 04, 2021)
Evidence details
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals
Accession: SCV000282552.1
Submitted: (Apr 26, 2016)
Evidence details
Pathogenic
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Retinitis pigmentosa
Allele origin: germline
Natera, Inc.
Accession: SCV001459439.1
Submitted: (Dec 28, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression. McGuigan DB Genes 2017 PMID: 28704921
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa. Perez-Carro R Scientific reports 2016 PMID: 26806561
EYS is a major gene for rod-cone dystrophies in France. Audo I Human mutation 2010 PMID: 20333770
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. Abd El-Aziz MM Nature genetics 2008 PMID: 18836446

Text-mined citations for rs878853349...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021