NM_022124.6(CDH23):c.2330C>A (p.Thr777Lys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 21, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000658191.1

Allele description [Variation Report for NM_022124.6(CDH23):c.2330C>A (p.Thr777Lys)]

NM_022124.6(CDH23):c.2330C>A (p.Thr777Lys)

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.2330C>A (p.Thr777Lys)
HGVS:
  • NC_000010.11:g.71695458C>A
  • NG_008835.1:g.303512C>A
  • NM_001171930.2:c.2330C>A
  • NM_001171931.2:c.2330C>A
  • NM_022124.6:c.2330C>AMANE SELECT
  • NP_001165401.1:p.Thr777Lys
  • NP_001165402.1:p.Thr777Lys
  • NP_071407.4:p.Thr777Lys
  • NC_000010.10:g.73455215C>A
  • NM_022124.5:c.2330C>A
  • c.2330C>A
Protein change:
T777K
Links:
dbSNP: rs199709482
NCBI 1000 Genomes Browser:
rs199709482
Molecular consequence:
  • NM_001171930.2:c.2330C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171931.2:c.2330C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022124.6:c.2330C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000779962GeneDxcriteria provided, single submitter
Uncertain significance
(May 21, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000779962.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The T777K variant in the CDH23 gene has been reported previously with a second CDH23 variant in a patient with Usher syndrome type 1, however, additional clinical and familial segregation information was not included (Bonnet et al., 2016). The T777K variant is observed in 5/30,782 (0.016%) alleles from individuals of South Asian background in large population cohorts (Lek et al., 2016). The T777K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret T777K as a variant of uncertain significance.

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

Last Updated: Jul 7, 2021

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