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NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jul 4, 2021)
Last evaluated:
Nov 24, 2020
Accession:
VCV000493061.11
Variation ID:
493061
Description:
single nucleotide variant
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NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)

Allele ID
486024
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 215675463 (GRCh38) GRCh38 UCSC
1: 215848805 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.215848805T>C
NC_000001.11:g.215675463T>C
NG_009497.1:g.752934A>G
... more HGVS
Protein change
T4150A
Other names
-
Canonical SPDI
NC_000001.11:215675462:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA344850876
dbSNP: rs1172628170
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Oct 1, 2017 RCV000585084.3
Pathogenic 2 criteria provided, single submitter Jan 9, 2020 RCV001003256.2
Uncertain significance 1 criteria provided, single submitter Nov 24, 2020 RCV001269243.1
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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
3406 4061

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 09, 2020)
criteria provided, single submitter
Method: research
Retinitis pigmentosa
Allele origin: germline
Molecular Genetics Laboratory,Institute for Ophthalmic Research
Accession: SCV001162721.1
Submitted: (Jan 09, 2020)
Evidence details
Likely pathogenic
(Oct 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000692663.10
Submitted: (Jul 04, 2021)
Evidence details
Uncertain significance
(Nov 24, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001448563.1
Submitted: (Dec 02, 2020)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: USH2A c.12448A>G (p.Thr4150Ala) results in a non-conservative amino acid change located in the Fibronectin type III domain (IPR0003961) of the encoded protein sequence. … (more)
Likely pathogenic
(Jun 23, 2019)
no assertion criteria provided
Method: research
Retinitis pigmentosa
Allele origin: inherited
Sharon lab,Hadassah-Hebrew University Medical Center
Accession: SCV001161338.1
Submitted: (Jun 25, 2019)
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
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period. Weisschuh N Human mutation 2020 PMID: 32531858
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). Sharon D Human mutation 2020 PMID: 31456290

Text-mined citations for rs1172628170...

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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