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NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)

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Interpretation:
Uncertain significance​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
6 (Most recent: Sep 30, 2021)
Last evaluated:
Jul 28, 2020
Accession:
VCV000073556.5
Variation ID:
73556
Description:
single nucleotide variant
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NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)

Allele ID
84447
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 215817134 (GRCh38) GRCh38 UCSC
1: 215990476 (GRCh37) GRCh37 UCSC
1: 214057099 (NCBI36) NCBI36 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.215817134G>A
NC_000001.10:g.215990476G>A
NG_009497.1:g.611263C>T
... more HGVS
Protein change
L3145F
Other names
-
Canonical SPDI
NC_000001.11:215817133:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 reviewed by expert panel Jul 28, 2020 RCV001252675.1
Pathogenic 1 criteria provided, single submitter Nov 20, 2018 RCV001073325.1
Uncertain significance 3 criteria provided, single submitter Dec 31, 2019 RCV001036584.3
Uncertain significance 1 criteria provided, single submitter Apr 1, 2021 RCV001723641.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
USH2A - - GRCh38
GRCh37
3452 4058

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 28, 2020)
reviewed by expert panel
Method: curation
Usher syndrome
(Autosomal recessive inheritance)
Allele origin: germline
ClinGen Hearing Loss Variant Curation Expert Panel
FDA Recognized Database
Accession: SCV001428434.1
Submitted: (Aug 11, 2020)
Evidence details
Publications
PubMed (3)
Other databases
https://erepo.clinicalgenome.org…
Comment:
The c.9433C>T (p.Leu3145Phe) variant in USH2A is present in 0.0033% (1/30612) of South Asian allele in gnomAd v2.1.1 and in 0.0074% (1/13568) of Latino alleles … (more)
Uncertain significance
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001199957.1
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces leucine with phenylalanine at codon 3145 of the USH2A protein (p.Leu3145Phe). The leucine residue is moderately conserved and there is a … (more)
Pathogenic
(Nov 20, 2018)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001238864.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Uncertain significance
(Apr 01, 2021)
criteria provided, single submitter
Method: curation
Retinitis pigmentosa
(Autosomal recessive inheritance)
Allele origin: germline
Broad Institute Rare Disease Group, Broad Institute
Accession: SCV001950413.1
Submitted: (Sep 29, 2021)
Evidence details
Publications
PubMed (3)
Comment:
The p.Leu3145Phe variant in USH2A was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics … (more)
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001922815.1
Submitted: (Sep 23, 2021)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001959788.1
Submitted: (Sep 30, 2021)
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
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. Pierrache LH Ophthalmology 2016 PMID: 26927203
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa. Perez-Carro R Scientific reports 2016 PMID: 26806561
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. Ge Z Scientific reports 2015 PMID: 26667666
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/bdb45e0a-901a-41b7-8774-f1f4723b74c7 - - - -

Record last updated Nov 20, 2021