ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4543G>T (p.Val1515Leu)

dbSNP: rs758050912
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002541665 SCV002958407 uncertain significance not provided 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1515 of the CDH23 protein (p.Val1515Leu). This variant is present in population databases (rs758050912, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 989834). 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 C0"). 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.
Natera, Inc. RCV001277733 SCV001464702 uncertain significance Usher syndrome type 1 2020-08-17 no assertion criteria provided clinical testing

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