ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7442C>G (p.Pro2481Arg) (rs397517351)

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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 RCV000039266 SCV000062950 uncertain significance not specified 2011-02-14 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Pro2481Arg vari ant in CDH23 has not been reported in the literature nor previously identified b y our laboratory. This residue is conserved across species and computational ana lyses (AlignGVGD, SIFT) suggest that the Pro2481Arg variant may impact the prote in. However, this information is not predictive enough to assume pathogenicity. In summary, the clinical significance of this variant cannot be determined at th is time.

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