ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2149A>G (p.Thr717Ala)

dbSNP: rs397517314
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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 RCV000039121 SCV000062803 likely benign not specified 2011-10-14 criteria provided, single submitter clinical testing Thr717Ala in exon 20 of CDH23: This variant is not expected to have clinical sig nificance because computational analyses (PolyPhen2, SIFT, AlignGVGD) do not sug gest a high likelihood of impact to the protein, primarily based upon a lack of conservation across species including mammals. Of note, orangutan, macaque, and rhesus have analanine (Ala) at this position despite high nearby amino acid cons ervation.

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