NM_022124.6(CDH23):c.913del (p.Leu305fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 19, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001228251.7

Allele description [Variation Report for NM_022124.6(CDH23):c.913del (p.Leu305fs)]

NM_022124.6(CDH23):c.913del (p.Leu305fs)

Gene:

CDH23:cadherin related 23 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10q22.1

Genomic location:

Preferred name:

NM_022124.6(CDH23):c.913del (p.Leu305fs)

HGVS:

NC_000010.11:g.71615584del
NG_008835.1:g.223638del
NM_001171930.2:c.913del
NM_001171931.2:c.913del
NM_001171932.2:c.913del
NM_022124.6:c.913delMANE SELECT
NM_052836.4:c.913del
NP_001165401.1:p.Leu305fs
NP_001165402.1:p.Leu305fs
NP_001165403.1:p.Leu305fs
NP_071407.4:p.Leu305fs
NP_443068.1:p.Leu305fs
NC_000010.10:g.73375337del
NC_000010.10:g.73375341del
NM_022124.5:c.913del
NM_022124.5:c.913delC

Protein change:

L305fs

Links:

dbSNP: rs1393567447

NCBI 1000 Genomes Browser:

rs1393567447

Molecular consequence:

NM_001171930.2:c.913del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001171931.2:c.913del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001171932.2:c.913del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_022124.6:c.913del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_052836.4:c.913del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001400641	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Mar 19, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 25468891, 11138009, 21940737, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001400641

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Mar 19, 2023)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

Citations

PubMed

Targeted exon sequencing in Usher syndrome type I.

Bujakowska KM, Consugar M, Place E, Harper S, Lena J, Taub DG, White J, Navarro-Gomez D, Weigel DiFranco C, Farkas MH, Gai X, Berson EL, Pierce EA.

Invest Ophthalmol Vis Sci. 2014 Dec 2;55(12):8488-96. doi: 10.1167/iovs.14-15169.

PubMed [citation]

PMID:: 25468891
PMCID:: PMC4280089

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C.

Nat Genet. 2001 Jan;27(1):108-12.

PubMed [citation]

PMID:: 11138009

See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001400641.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 955581). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 25468891). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Leu305Cysfs*8) in the CDH23 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDH23 are known to be pathogenic (PMID: 11138009, 21940737).

#	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: Feb 20, 2024

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