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NM_022124.6(CDH23):c.5471G>A (p.Arg1824His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 11, 2020
Accession:
VCV000045980.3
Variation ID:
45980
Description:
single nucleotide variant
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NM_022124.6(CDH23):c.5471G>A (p.Arg1824His)

Allele ID
55145
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.1
Genomic location
10: 71784389 (GRCh38) GRCh38 UCSC
10: 73544146 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.73544146G>A
NC_000010.11:g.71784389G>A
NG_008835.1:g.392443G>A
NM_022124.6:c.5471G>A MANE Select NP_071407.4:p.Arg1824His missense
Protein change
R1824H
Other names
-
Canonical SPDI
NC_000010.11:71784388:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00008
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA137489
dbSNP: rs111033491
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Sep 11, 2020 RCV000724007.2
Uncertain significance 1 criteria provided, single submitter Dec 7, 2009 RCV000039215.4
Uncertain significance 1 no assertion criteria provided Mar 17, 2020 RCV001273562.1
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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
(Dec 07, 2009)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000062899.5
Submitted: (Mar 21, 2019)
Evidence details
Uncertain significance
(Aug 20, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000230598.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Sep 11, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001512681.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with histidine at codon 1824 of the CDH23 protein (p.Arg1824His). The arginine residue is highly conserved and there is a … (more)
Uncertain significance
(Mar 17, 2020)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 1
Allele origin: germline
Natera, Inc.
Accession: SCV001456699.1
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CDH23 - - - -

Text-mined citations for rs111033491...

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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