ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) (rs550384315)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150283 SCV000197308 uncertain significance not specified 2013-06-11 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Val746Ile varia nt in CDH23 has not been reported in individuals with hearing loss or in large p opulation studies. Computational analyses (biochemical amino acid properties, co nservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Of note, frog has a isoleucine (Ile) at this position despite high nearby amino acid conservation. In summary, the clinical s ignificance of this variant cannot be determined with certainty; however, based upon the arguments described above, we would lean towards a more likely benign r ole.
GeneDx RCV000657974 SCV000779745 likely benign not provided 2020-12-31 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18429043, 31054281, 32707200)
Fulgent Genetics,Fulgent Genetics RCV000764912 SCV000896075 uncertain significance Deafness, autosomal recessive 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000657974 SCV001029086 benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001105264 SCV001262204 uncertain significance Deafness, autosomal recessive 12 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001105265 SCV001262205 uncertain significance Usher syndrome type 1D 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001105265 SCV001572163 uncertain significance Usher syndrome type 1D 2021-04-08 criteria provided, single submitter research The CDH23 c.2236G>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. Based on this evidence we have classified this variant as Variant of Uncertain Significance.
Natera, Inc. RCV001275937 SCV001461617 uncertain significance Usher syndrome type 1 2020-04-15 no assertion criteria provided clinical testing

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