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NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Nov 19, 2020)
Last evaluated:
Apr 6, 2020
Accession:
VCV000988716.1
Variation ID:
988716
Description:
single nucleotide variant
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NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)

Allele ID
976659
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.1
Genomic location
10: 71705023 (GRCh38) GRCh38 UCSC
10: 73464780 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.73464780C>T
NC_000010.11:g.71705023C>T
NG_008835.1:g.313077C>T
... more HGVS
Protein change
T949I
Other names
-
Canonical SPDI
NC_000010.11:71705022:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 no assertion criteria provided Apr 6, 2020 RCV001270375.1
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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
(Apr 06, 2020)
no assertion criteria provided
Method: clinical testing
Deafness, autosomal recessive 12
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Allele origin: de novo
Service de Génétique Moléculaire,Hôpital Robert Debré
Accession: SCV001450655.1
Submitted: (Nov 19, 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.

Record last updated Oct 08, 2021