ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6949G>T (p.Ala2317Ser)

gnomAD frequency: 0.00003  dbSNP: rs727502930
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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, Mass General Brigham Personalized Medicine RCV000150313 SCV000197399 likely benign not specified 2013-10-05 criteria provided, single submitter clinical testing Ala2317Ser in Exon 50 of CDH23: This variant is not expected to have clinical si gnificance because it is not well conserved across species with platypus and sev eral distant species (birds, reptiles, and fish) having a Ser at that position. In addition, computational analyses (biochemical amino acid properties, AlignGVG D, PolyPhen2, and SIFT) predict that the Ala2317Ser variant may not impact the p rotein.

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