ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) (rs200542052)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039149 SCV000062833 benign not specified 2015-07-02 criteria provided, single submitter clinical testing p.Ile1121Phe in exon 28 of CDH23: This variant is not expected to have clinical significance because it is has been identified in 0.6% (44/7874) of African chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs200542052).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724083 SCV000228647 uncertain significance not provided 2017-02-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000724083 SCV000885160 uncertain significance not provided 2017-09-05 criteria provided, single submitter clinical testing The p.Ile1121Phe variant (rs200542052) has not been reported in the medical literature. This variant is listed in the Genome Aggregation Database (gnomAD) browser with an allele frequency of 0.46% in the African population (identified in 108 out of 23,580 chromosomes; 0 homozygotes), and is listed in ClinVar with conflicting interpretations of pathogenicity (benign/uncertain significance; Variant ID: 45916). The isoleucine at codon 1121 is highly conserved considering 12 species up to zebrafish (Alamut software v2.9.0), and computational analyses suggest that this variant affects the CDH23 protein structure/function (SIFT: damaging, PolyPhen2: possibly damaging, MutationTaster: disease causing). While the frequency of this variant in the African population suggests that it is a benign polymorphism, the available evidence is insufficient to classify the clinical significance with certainty.
Invitae RCV000724083 SCV001041876 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075026 SCV001240637 uncertain significance Retinal dystrophy 2018-03-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272560 SCV001454652 likely benign Usher syndrome type 1 2020-04-13 no assertion criteria provided clinical testing
GeneDx RCV000724083 SCV001795644 likely benign not provided 2020-08-10 no assertion criteria provided clinical testing

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