ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7055-15G>A (rs371872394)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000615673 SCV000731563 uncertain significance not specified 2017-08-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The c.7055-15G>A va riant in CDH23 has not been previously reported in individuals with hearing loss , but has been identified in 1/109340 European chromosomes by the Genome Aggrega tion Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs371872394). Alt hough this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. This variant is located in the 3' sp lice region. Computational tools do not suggest an impact to splicing. Furthermo re, this nucleotide is not conserved with two mammals (prairie vole and ferret) having an adenine (A) at this position. However, this information is not predict ive enough to rule out pathogenicity. In summary, while the clinical significanc e of the c.7055-15G>A variant is uncertain, the splicing and conservation data s uggest it is more likely to be benign.
Illumina Clinical Services Laboratory,Illumina RCV001102760 SCV001259447 uncertain significance Deafness, autosomal recessive 12 2017-04-27 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 RCV001102761 SCV001259448 uncertain significance Usher syndrome type 1D 2017-04-27 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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