ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5353G>A (p.Asp1785Asn)

gnomAD frequency: 0.00001  dbSNP: rs397517338
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039210 SCV000062894 uncertain significance not specified 2011-11-02 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Asp1785Asn 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. In summary, the clinical significance of this variant cannot be d etermined with certainty at this time.
Natera, Inc. RCV001831668 SCV002089419 uncertain significance Usher syndrome type 1 2019-10-28 no assertion criteria provided clinical testing

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