ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.901C>T (p.Arg301Trp) (rs397517364)

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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, Partners HealthCare Personalized Medicine RCV000039302 SCV000062986 uncertain significance not specified 2011-04-26 criteria provided, single submitter clinical testing The Arg301Trp variant in CDH23 has not been reported in the literature nor previ ously identified by our laboratory. However, another amino acid change (Arg301Gl n) occurs at this position, which has been reported in two Japanese probands wit h hearing loss, both carrying the variant with a second CDH23 variant (Wagatsuma 2007). Furthermore, this residue is highly conserved across species and computa tional analyses (PolyPhen2, SIFT, AlignGVGD) suggest that the Arg301Trp variant may impact the protein. However, this information is not predictive enough to as sume pathogenicity. In summary, the clinical significance of this variant cannot be determined with certainty at this time; however based upon the arguments des cribed above, we would lean towards a more likely pathogenic role.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727113 SCV000705834 uncertain significance not provided 2017-02-06 criteria provided, single submitter clinical testing

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