NM_022124.6(CDH23):c.4488G>C (p.Gln1496His) AND Usher syndrome type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 24, 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:: RCV001835621.1

Allele description [Variation Report for NM_022124.6(CDH23):c.4488G>C (p.Gln1496His)]

NM_022124.6(CDH23):c.4488G>C (p.Gln1496His)

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.4488G>C (p.Gln1496His)

HGVS:

NC_000010.11:g.71739772G>C
NG_008835.1:g.347826G>C
NM_022124.6:c.4488G>CMANE SELECT
NP_071407.4:p.Gln1496His
NC_000010.10:g.73499529G>C
NM_022124.5:c.4488G>C

Protein change:

Q1496H; GLN1496HIS

Links:

OMIM: 605516.0001; dbSNP: rs121908347

NCBI 1000 Genomes Browser:

rs121908347

Molecular consequence:

NM_022124.6:c.4488G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002087434	Natera, Inc.	no assertion criteria provided	Pathogenic (Jan 24, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002087434

Natera, Inc.

no assertion criteria provided

Pathogenic
(Jan 24, 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., SCV002087434.1

#	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: Jun 14, 2025

ClinVar

Relating variation to medicine