ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) (rs376271562)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764919 SCV000896082 uncertain significance Deafness, autosomal recessive 12; Usher syndrome, type 1D; PITUITARY ADENOMA 5, MULTIPLE TYPES 2018-10-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039212 SCV000062896 uncertain significance not specified 2011-10-24 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg1804Trp vari ant in CDH23 has not been reported in the literature nor previously identified b y our laboratory. Computational analyses (biochemical amino acid properties, hom ology, PolyPhen2, SIFT, AlignGVGD) do not provide strong support for or against pathogenicity. However, another amino acid change at this position (Arg1804Gln) is a common benign variant with a frequency of 3.4%-31.1% in various racial grou ps (dbSNP rs3802711). It should be noted that this lab has only sequenced CDH23 in 16 black probands and no black healthy controls. In addition, healthy control information is limited in either public databases or scientific literature, suc h that the full spectrum of benign variation has not yet been defined for this p opulation. Future analysis could reveal that the Arg1804Trp variant is common in this population and therefore unlikely to be pathogenic. In summary, the clinic al significance of this variant cannot be determined with certainty at this time ; however based upon the arguments described above, we would lean towards a more likely benign role.

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