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NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Feb 21, 2021)
Last evaluated:
May 3, 2019
Accession:
VCV000198370.4
Variation ID:
198370
Description:
single nucleotide variant
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NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)

Allele ID
195531
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.1
Genomic location
10: 71812781 (GRCh38) GRCh38 UCSC
10: 73572538 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.73572538G>A
NC_000010.11:g.71812781G>A
NG_008835.1:g.420835G>A
... more HGVS
Protein change
R3175H, R935H, R72H
Other names
-
Canonical SPDI
NC_000010.11:71812780:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00013
The Genome Aggregation Database (gnomAD), exomes 0.00028
Exome Aggregation Consortium (ExAC) 0.00029
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00016
Trans-Omics for Precision Medicine (TOPMed) 0.00021
Links
ClinGen: CA246988
dbSNP: rs140884994
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 Jul 19, 2016 RCV000179680.2
Uncertain significance 1 criteria provided, single submitter Oct 11, 2017 RCV000624879.1
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000763668.1
Uncertain significance 1 criteria provided, single submitter May 3, 2019 RCV001331235.1
Uncertain significance 1 no assertion criteria provided Sep 16, 2020 RCV001276932.1

Clinical features observed in individuals with this variant

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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
2136 2571

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 19, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000231968.5
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (1)
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome type 1D
Deafness, autosomal recessive 12
Pituitary adenoma 5, multiple types
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000894548.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Oct 11, 2017)
criteria provided, single submitter
Method: clinical testing
Inborn genetic diseases
Allele origin: germline
Ambry Genetics
Accession: SCV000742727.2
Submitted: (Oct 09, 2020)
Evidence details
Publications
PubMed (2)
Uncertain significance
(May 03, 2019)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 12
Allele origin: unknown
Baylor Genetics
Accession: SCV001523229.1
Submitted: (Feb 21, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Uncertain significance
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 1
Allele origin: germline
Natera, Inc.
Accession: SCV001463589.1
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
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss. Wagatsuma M Clinical genetics 2007 PMID: 17850630
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Astuto LM American journal of human genetics 2002 PMID: 12075507
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CDH23 - - - -

Text-mined citations for rs140884994...

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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 Oct 08, 2021