ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3337G>C (p.Glu1113Gln) (rs397517322)

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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 RCV000039148 SCV000062832 uncertain significance not specified 2013-02-07 criteria provided, single submitter clinical testing The Glu1113Gln variant in CDH23 has been reported in one family with Usher syndr ome type III who also carried a second CDH23 variant and two compound heterozygo us variants in another gene (Le Quesne Stabej 2012). It is unclear if any of the variants identified in this family, including Glu1113Gln, are responsible for t heir clinical features. Computational analyses (biochemical amino acid propertie s, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support f or or against an impact to the protein. Additional data is needed to determine t he clinical significance of this variant.
Natera, Inc. RCV001271863 SCV001453336 uncertain significance Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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