ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6344G>A (p.Arg2115His)

gnomAD frequency: 0.00001  dbSNP: rs1270566026
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002524399 SCV003522531 uncertain significance not provided 2022-02-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 2115 of the CDH23 protein (p.Arg2115His). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 437903). 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 C25"). 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.
OMIM RCV000504590 SCV000598644 pathogenic Pituitary adenoma 5, multiple types 2017-09-26 no assertion criteria provided literature only

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