ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1637G>A (p.Arg546Gln)

gnomAD frequency: 0.00026  dbSNP: rs199508694
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039112 SCV000062794 uncertain significance not specified 2012-07-30 criteria provided, single submitter clinical testing The Arg546Gln variant in CDH23 has not been reported in the literature, but has now been identified in 2/36 Black or African American individuals with hearing l oss by our laboratory, neither of whom has a second CDH23 variant. In addition, this variant has been identified in 0.1% (4/4234) of African American chromosome s from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.w ashington.edu/EVS/). However, this frequency is not enough to rule out a pathoge nic role. Computational analyses (biochemical amino acid properties, conservatio n, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, additional data is needed to determine the clinical significance of this variant.
Invitae RCV001042981 SCV001206691 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001042981 SCV001983053 uncertain significance not provided 2022-04-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003278657 SCV003975782 uncertain significance Inborn genetic diseases 2023-05-17 criteria provided, single submitter clinical testing The c.1637G>A (p.R546Q) alteration is located in exon 16 (coding exon 15) of the CDH23 gene. This alteration results from a G to A substitution at nucleotide position 1637, causing the arginine (R) at amino acid position 546 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001826564 SCV002091296 uncertain significance Usher syndrome type 1 2019-10-28 no assertion criteria provided clinical testing

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