ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2122T>G (p.Ser708Ala)

gnomAD frequency: 0.00001  dbSNP: rs764332602
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242828 SCV001415940 uncertain significance not provided 2024-10-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 708 of the CDH23 protein (p.Ser708Ala). This variant is present in population databases (rs764332602, gnomAD 0.003%). 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: 967826). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CDH23 protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002491810 SCV002776802 uncertain significance Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2021-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002564045 SCV003592828 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.2122T>G (p.S708A) alteration is located in exon 20 (coding exon 19) of the CDH23 gene. This alteration results from a T to G substitution at nucleotide position 2122, causing the serine (S) at amino acid position 708 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835142 SCV002085505 uncertain significance Usher syndrome type 1 2020-03-17 no assertion criteria provided clinical testing

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