ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5663T>C (p.Phe1888Ser)

dbSNP: rs121908352
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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 RCV001851663 SCV002247155 pathogenic not provided 2021-10-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces phenylalanine with serine at codon 1888 of the CDH23 protein (p.Phe1888Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with autosomal recessive deafness (PMID: 15829536). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 4924). 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 C65").
OMIM RCV000005206 SCV000025383 pathogenic Autosomal recessive nonsyndromic hearing loss 12 2005-04-14 no assertion criteria provided literature only

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