ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn) (rs372388344)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038259 SCV001201723 uncertain significance not provided 2019-09-10 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 3296 of the CDH23 protein (p.Asp3296Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs372388344, ExAC 0.02%). This variant has not been reported in the literature in individuals with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 437905). 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.
OMIM RCV000504587 SCV000598646 pathogenic Pituitary adenoma 5, multiple types 2017-09-27 no assertion criteria provided literature only
Natera, Inc. RCV001271955 SCV001453530 uncertain significance Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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