ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4103C>T (p.Thr1368Met) (rs762247872)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000265935 SCV000363726 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 RCV000300732 SCV000363727 uncertain significance Deafness, autosomal recessive 12 2017-04-28 criteria provided, single submitter clinical testing The CDH23 c.4103C>T (p.Thr1368Met) missense variant has been reported in one study in which it was found in a compound heterozygous state in one individual with hearing loss (Miyagawa et al. 2012). The p.Thr1368Met variant was absent from 192 control individuals with normal hearing and is reported at a frequency of 0.00109 in the East Asian population of the Exome Aggregation Consortium, but this is based on only one allele. The evidence for this variant is limited. The p.Thr1368Met variant is therefore classified as a variant of unknown significance, but suspicious for pathogenicity for nonsyndromic hearing loss. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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