ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4797C>G (p.Phe1599Leu)

gnomAD frequency: 0.00001  dbSNP: rs1470816023
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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 RCV002580051 SCV002930827 uncertain significance not provided 2022-01-22 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1599 of the CDH23 protein (p.Phe1599Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CDH23-related conditions. 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: "Tolerated"; 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.
Ambry Genetics RCV002580050 SCV003643347 uncertain significance Inborn genetic diseases 2022-09-06 criteria provided, single submitter clinical testing The c.4797C>G (p.F1599L) alteration is located in exon 38 (coding exon 37) of the CDH23 gene. This alteration results from a C to G substitution at nucleotide position 4797, causing the phenylalanine (F) at amino acid position 1599 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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