ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile) (rs201610096)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039166 SCV000062850 likely benign not specified 2013-07-05 criteria provided, single submitter clinical testing Val1299Ile in Exon 32A of CDH23: This variant is not expected to have clinical s ignificance because it has been identified in 0.1% (1/593) of European chromosom es by the ClinSeq project and in 0.06% (5/8414) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs201610096), is reported as likely benign (Le Quesne Stabej 2012), and the val ine (Val) residue at position 1299 is not conserved in lower species with frog h aving an isoleucine (Ile).
Invitae RCV001044674 SCV001208480 uncertain significance not provided 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 1299 of the CDH23 protein (p.Val1299Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs201610096, ExAC 0.04%). This variant has not been reported in the literature in individuals with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 45932). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C25"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Illumina Clinical Services Laboratory,Illumina RCV001105662 SCV001262647 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). 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 RCV001105663 SCV001262648 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.

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