ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3248C>T (p.Thr1083Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046321 SCV001210218 uncertain significance not provided 2019-12-31 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 1083 of the CDH23 protein (p.Thr1083Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs756165682, ExAC 0.01%). This variant has not been reported in the literature in individuals with CDH23-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Not Available; Align-GVGD: Class C). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 5
Natera, Inc. RCV001272557 SCV001454649 uncertain significance Usher syndrome type 1 2020-03-17 no assertion criteria provided clinical testing

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