ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.460G>A (p.Val154Met) (rs199741966)

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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 RCV000039185 SCV000062869 uncertain significance not specified 2010-07-27 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Val154Met varia nt has not been reported in the literature nor previously identified by our labo ratory. This residue is conserved across species; however, computational analyse s (PolyPhen, SIFT, AlignGVGD) provide inconsistent predictions regarding the imp act to the protein and this information is not very predictive of pathogenicity anyway. In summary, the clinical significance of this variant cannot be determin ed with certainty at this time.
Invitae RCV001047099 SCV001211034 uncertain significance not provided 2020-01-06 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 154 of the CDH23 protein (p.Val154Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs199741966, ExAC 0.05%). This variant has not been reported in the literature in individuals with CDH23-related disease. ClinVar contains an entry for this variant (Variation ID: 45951). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; 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.

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