NM_022124.6(CDH23):c.7996A>G (p.Ile2666Val) AND Usher syndrome type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 30, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001828964.1

Allele description [Variation Report for NM_022124.6(CDH23):c.7996A>G (p.Ile2666Val)]

NM_022124.6(CDH23):c.7996A>G (p.Ile2666Val)

Genes:

LOC111982869:Sharpr-MPRA regulatory region 2121 [Gene]
CDH23:cadherin related 23 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

Preferred name:

NM_022124.6(CDH23):c.7996A>G (p.Ile2666Val)

HGVS:

NC_000010.11:g.71805929A>G
NG_008835.1:g.413983A>G
NG_056362.1:g.198A>G
NM_001171933.1:c.1276A>G
NM_001171934.1:c.1276A>G
NM_022124.6:c.7996A>GMANE SELECT
NP_001165404.1:p.Ile426Val
NP_001165405.1:p.Ile426Val
NP_071407.4:p.Ile2666Val
NC_000010.10:g.73565686A>G
NM_022124.5:c.7996A>G

Protein change:

I2666V

Links:

dbSNP: rs368394419

NCBI 1000 Genomes Browser:

rs368394419

Molecular consequence:

NM_001171933.1:c.1276A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001171934.1:c.1276A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_022124.6:c.7996A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Usher syndrome type 1 (USH1)
Synonyms:: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS; Usher syndrome, type I, French variety
Identifiers:: MONDO: MONDO:0010168; MedGen: C1568247; Orphanet: 231169; Orphanet: 886; OMIM: 276900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002088784	Natera, Inc.	no assertion criteria provided	Uncertain significance (Sep 30, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002088784

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Sep 30, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV002088784.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 13, 2025

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