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NM_022124.6(CDH23):c.3142C>T (p.Arg1048Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 17, 2022
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:
RCV002266528.1

Allele description [Variation Report for NM_022124.6(CDH23):c.3142C>T (p.Arg1048Cys)]

NM_022124.6(CDH23):c.3142C>T (p.Arg1048Cys)

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.3142C>T (p.Arg1048Cys)
HGVS:
  • NC_000010.11:g.71709133C>T
  • NG_008835.1:g.317187C>T
  • NM_001171930.2:c.3142C>T
  • NM_022124.6:c.3142C>TMANE SELECT
  • NP_001165401.1:p.Arg1048Cys
  • NP_071407.4:p.Arg1048Cys
  • NC_000010.10:g.73468890C>T
  • NM_022124.5:c.3142C>T
Protein change:
R1048C
Links:
dbSNP: rs181843079
NCBI 1000 Genomes Browser:
rs181843079
Molecular consequence:
  • NM_001171930.2:c.3142C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022124.6:c.3142C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002547553Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(May 17, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002547553.1

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

Description

Variant summary: CDH23 c.3142C>T (p.Arg1048Cys) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 9.6e-05 in 248774 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in CDH23 causing Usher Syndrome (9.6e-05 vs 0.0032), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.3142C>T in individuals affected with Usher Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 29, 2024