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NM_022124.6(CDH23):c.2330C>A (p.Thr777Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Dec 28, 2020)
Last evaluated:
May 21, 2018
Accession:
VCV000045894.3
Variation ID:
45894
Description:
single nucleotide variant
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NM_022124.6(CDH23):c.2330C>A (p.Thr777Lys)

Allele ID
55059
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.1
Genomic location
10: 71695458 (GRCh38) GRCh38 UCSC
10: 73455215 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.73455215C>A
NC_000010.11:g.71695458C>A
NG_008835.1:g.303512C>A
... more HGVS
Protein change
T777K
Other names
-
Canonical SPDI
NC_000010.11:71695457:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
ClinGen: CA137322
dbSNP: rs199709482
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 criteria provided, single submitter Feb 14, 2013 RCV000039127.2
Uncertain significance 1 criteria provided, single submitter May 21, 2018 RCV000658191.1
Uncertain significance 1 no assertion criteria provided Sep 16, 2020 RCV001271850.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CDH23 - - GRCh38
GRCh37
2168 2608

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 21, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000779962.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The T777K variant in the CDH23 gene has been reported previously with a second CDH23 variant in a patient with Usher syndrome type 1, however, … (more)
Uncertain significance
(Feb 14, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000062809.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Variant classified as Uncertain Significance - Favor Benign. The Thr777Lys varia nt in CDH23 has not been reported in the literature nor previously identified by … (more)
Uncertain significance
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 1
Allele origin: germline
Natera, Inc.
Accession: SCV001453322.1
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs199709482...

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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