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NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 29, 2021)
Last evaluated:
Oct 6, 2020
Accession:
VCV000043345.9
Variation ID:
43345
Description:
single nucleotide variant
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NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter)

Allele ID
52515
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.5
Genomic location
11: 77158426 (GRCh38) GRCh38 UCSC
11: 76869472 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1420:g.35181T>G
LRG_1420t1:c.999T>G LRG_1420p1:p.Tyr333Ter
NC_000011.10:g.77158426T>G
... more HGVS
Protein change
Y333*, Y322*
Other names
-
Canonical SPDI
NC_000011.10:77158425:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA278716
dbSNP: rs111033285
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts Oct 6, 2020 RCV000421042.4
Pathogenic 1 criteria provided, single submitter Jan 22, 2018 RCV000036253.3
Pathogenic 1 criteria provided, single submitter Jan 19, 2019 RCV001075598.1
Pathogenic 1 no assertion criteria provided Oct 19, 2017 RCV000670120.1
Pathogenic 1 no assertion criteria provided Sep 16, 2020 RCV001275899.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYO7A - - GRCh38
GRCh37
2153 2163

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 19, 2019)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001241225.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Pathogenic
(Jan 22, 2018)
criteria provided, single submitter
Method: clinical testing
Rare genetic deafness
(Autosomal recessive inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000059905.6
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (4)
Comment:
proposed classification - variant undergoing re-assessment, contact laboratory
Pathogenic
(Oct 06, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001395944.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change creates a premature translational stop signal (p.Tyr333*) in the MYO7A gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Jun 29, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000521009.5
Submitted: (Sep 29, 2021)
Evidence details
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (more)
Pathogenic
(Jul 24, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000854941.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 1B
Allele origin: germline
Natera, Inc.
Accession: SCV001461550.1
Submitted: (Dec 28, 2020)
Evidence details
Pathogenic
(Oct 19, 2017)
no assertion criteria provided
Method: clinical testing
Deafness, autosomal recessive 2
Allele origin: unknown
Counsyl
Accession: SCV000794937.2
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (2)

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
Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing. Soares de Lima Y Hearing research 2018 PMID: 30390570
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. Yan D Human genetics 2016 PMID: 27344577
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Sloan-Heggen CM Human genetics 2016 PMID: 26969326
Targeted next generation sequencing for molecular diagnosis of Usher syndrome. Aparisi MJ Orphanet journal of rare diseases 2014 PMID: 25404053
Retinal disease course in Usher syndrome 1B due to MYO7A mutations. Jacobson SG Investigative ophthalmology & visual science 2011 PMID: 21873662
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Jacobson SG Human molecular genetics 2008 PMID: 18463160
USH1A: chronicle of a slow death. Gerber S American journal of human genetics 2006 PMID: 16400615
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. Weston MD American journal of human genetics 1996 PMID: 8900236
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MYO7A - - - -

Text-mined citations for rs111033285...

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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 Oct 02, 2021