ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8726G>A (p.Ser2909Asn) (rs397517361)

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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 RCV000039288 SCV000062972 uncertain significance not specified 2013-03-09 criteria provided, single submitter clinical testing The Ser2909Asn variant in CDH23 has not been reported in affected individuals or in large population studies. Computational analyses (biochemical amino acid pro perties, conservation, AlignGVGD, PolyPhen2) suggest that the Ser2909Asn variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, additional information is needed to fully assess the clinical significance of the variant.
Invitae RCV001368613 SCV001565014 uncertain significance not provided 2020-08-20 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 2909 of the CDH23 protein (p.Ser2909Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs397517361, ExAC 0.01%). This variant has not been reported in the literature in individuals with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 46052). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Deleterious; PolyPhen-2: Not Available; Align-GVGD: Class C0. The asparagine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Natera, Inc. RCV001276058 SCV001461886 uncertain significance Usher syndrome type 1 2020-04-17 no assertion criteria provided clinical testing

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