NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) AND Usher syndrome type 1D

Clinical significance:Uncertain significance (Last evaluated: Apr 8, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001376240.1

Allele description [Variation Report for NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)]

NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)

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.6049G>A (p.Gly2017Ser)
HGVS:
  • NC_000010.11:g.71790413G>A
  • NG_008835.1:g.398467G>A
  • NM_022124.6:c.6049G>AMANE SELECT
  • NP_071407.4:p.Gly2017Ser
  • NC_000010.10:g.73550170G>A
  • NM_022124.5:c.6049G>A
  • c.6049G>A
Protein change:
G2017S
Links:
dbSNP: rs183431253
NCBI 1000 Genomes Browser:
rs183431253
Molecular consequence:
  • NM_022124.6:c.6049G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Usher syndrome type 1D (USH1D)
Synonyms:
USHER SYNDROME, TYPE ID
Identifiers:
MONDO: MONDO:0010984; MedGen: C1832845; Orphanet: 231169; Orphanet: 886; OMIM: 601067

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001573313Ocular Genomics Institute, Massachusetts Eye and Earcriteria provided, single submitter
Uncertain significance
(Apr 8, 2021)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.

Roux AF, Faugère V, Le Guédard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M; French Usher Syndrome Collaboration..

J Med Genet. 2006 Sep;43(9):763-8. Epub 2006 May 5.

PubMed [citation]
PMID:
16679490
PMCID:
PMC2564578

Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.

Oshima A, Jaijo T, Aller E, Millan JM, Carney C, Usami S, Moller C, Kimberling WJ.

Hum Mutat. 2008 Jun;29(6):E37-46. doi: 10.1002/humu.20761.

PubMed [citation]
PMID:
18429043
PMCID:
PMC2399895
See all PubMed Citations (4)

Details of each submission

From Ocular Genomics Institute, Massachusetts Eye and Ear, SCV001573313.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (4)

Description

The CDH23 c.6049G>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PM3, PP3. Based on this evidence we have classified this variant as Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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