ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2572G>A (p.Val858Ile) (rs181275139)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039131 SCV000062813 likely benign not specified 2017-06-20 criteria provided, single submitter clinical testing p.Val858Ile in exon 23 of CDH23: This variant is not expected to have clinical s ignificance because the valine (Val) at position 858 is not conserved, with over 10 mammals having an isoleuceine (Ile) at this position. Furthermore, the vari ant is present in 0.4% (83/18868) of East Asian chromosomes by the Genome Aggreg ation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs181275139).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039131 SCV000228074 likely benign not specified 2016-07-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294284 SCV000363655 uncertain significance Deafness, autosomal recessive 12 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000349179 SCV000363656 uncertain significance Usher syndrome type 1D 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000887995 SCV001031597 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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