ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7615G>C (p.Gly2539Arg) (rs373649718)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039271 SCV000062955 uncertain significance not specified 2012-08-28 criteria provided, single submitter clinical testing The Gly2539Arg variant in CDH23 has not been reported in the literature nor prev iously identified by our laboratory. This variant has been identified in 1/8346 (0.01%) European American chromosomes from a broad, though clinically unspecifie d population (NHLBI Exome Sequencing Project; http://evs.gs.washington.edu/EVS). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational analyses (biochemi cal amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Gly2539Arg variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, additional data is needed to determine the clinical significance of this variant.

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