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NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Dec 28, 2020)
Last evaluated:
Aug 22, 2019
Accession:
VCV000422021.4
Variation ID:
422021
Description:
single nucleotide variant
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NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser)

Allele ID
407901
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.1
Genomic location
10: 71790309 (GRCh38) GRCh38 UCSC
10: 73550066 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.73550066A>G
NC_000010.11:g.71790309A>G
NG_008835.1:g.398363A>G
NM_022124.6:c.5945A>G MANE Select NP_071407.4:p.Asn1982Ser missense
Protein change
N1982S
Other names
-
Canonical SPDI
NC_000010.11:71790308:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00007
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00007
Links
ClinGen: CA5545947
dbSNP: rs555432123
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 Aug 22, 2019 RCV000483578.2
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000764920.1
Uncertain significance 1 no assertion criteria provided Sep 16, 2020 RCV001274896.1
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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
2136 2571

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 18, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000571379.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The N1982S variant in the CDH23 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The … (more)
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: SCV000896083.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Aug 22, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001421834.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces asparagine with serine at codon 1982 of the CDH23 protein (p.Asn1982Ser). The asparagine residue is highly conserved and there is a … (more)
Uncertain significance
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 1
Allele origin: germline
Natera, Inc.
Accession: SCV001459449.1
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

Text-mined citations for rs555432123...

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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