ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) (rs121908349)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818407 SCV000959018 likely pathogenic not provided 2018-11-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 2202 of the CDH23 protein (p.Asp2202Asn). 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 (rs121908349, ExAC 0.01%). This variant has been observed to segregate with non-syndromic deafness in several families (PMID: 11090341, 21940737). This variant is also known as D1400N in the literature. ClinVar contains an entry for this variant (Variation ID: 4920). 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 C15"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000005202 SCV000025379 pathogenic Deafness, autosomal recessive 12 2001-01-01 no assertion criteria provided literature only

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