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NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 20, 2021)
Last evaluated:
Feb 28, 2020
Accession:
VCV000228499.4
Variation ID:
228499
Description:
single nucleotide variant
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NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)

Allele ID
229891
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.1
Genomic location
10: 71793582 (GRCh38) GRCh38 UCSC
10: 73553339 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.73553339C>A
NC_000010.11:g.71793582C>A
NG_008835.1:g.401636C>A
NM_022124.6:c.6654C>A MANE Select NP_071407.4:p.Asp2218Glu missense
Protein change
D2218E
Other names
-
Canonical SPDI
NC_000010.11:71793581:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (A)

Allele frequency
1000 Genomes Project 0.00040
Trans-Omics for Precision Medicine (TOPMed) 0.00005
Links
ClinGen: CA5546141
dbSNP: rs537236734
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 26, 2015 RCV000222742.1
Uncertain significance 1 criteria provided, single submitter Feb 28, 2020 RCV000657978.2
Uncertain significance 1 no assertion criteria provided Apr 17, 2020 RCV001275578.1
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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
(Feb 26, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000271566.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The p.Asp2218Glu variant in CDH23 has not been previously reported in individual s with hearing loss, but has been identified in 0.1% (9/8502) of East … (more)
Uncertain significance
(Feb 28, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000779749.3
Submitted: (Sep 20, 2021)
Evidence details
Comment:
In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Uncertain significance
(Apr 17, 2020)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 1
Allele origin: germline
Natera, Inc.
Accession: SCV001460827.1
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 rs537236734...

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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