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NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Feb 6, 2020)
Last evaluated:
Sep 17, 2019
Accession:
VCV000866375.2
Variation ID:
866375
Description:
single nucleotide variant
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NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)

Allele ID
855990
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 216196671 (GRCh38) GRCh38 UCSC
1: 216370013 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.216370013A>G
NC_000001.11:g.216196671A>G
NG_009497.1:g.231726T>C
... more HGVS
Protein change
L1378P
Other names
-
Canonical SPDI
NC_000001.11:216196670:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs2034852728
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jun 19, 2019 RCV001074304.1
Uncertain significance 1 criteria provided, single submitter Sep 17, 2019 RCV001243846.1
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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
3407 4062
USH2A-AS1 - - - GRCh38 - 337

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 19, 2019)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001239877.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Uncertain significance
(Sep 17, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001417029.1
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces leucine with proline at codon 1378 of the USH2A protein (p.Leu1378Pro). The leucine residue is highly conserved and there is a … (more)

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
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. Le Quesne Stabej P Journal of medical genetics 2012 PMID: 22135276

Text-mined citations for rs2034852728...

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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