ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5237_5238delinsAT (p.Arg1746His)

dbSNP: rs2494344061
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002283394 SCV002571936 uncertain significance not specified 2022-08-10 criteria provided, single submitter clinical testing Variant summary: CDH23 c.5237_5238delinsAT (p.Arg1746His) results in a non-conservative amino acid change in the encoded protein sequence. Two of three in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 280608 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.5237_5238delinsAT in individuals affected with Usher Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096361 SCV002984556 uncertain significance not provided 2022-07-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CDH23-related conditions. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1746 of the CDH23 protein (p.Arg1746His). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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