ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn)

gnomAD frequency: 0.00006  dbSNP: rs202147495
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001577123 SCV001804454 uncertain significance not provided 2021-04-01 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
Fulgent Genetics, Fulgent Genetics RCV002493488 SCV002779991 uncertain significance Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001577123 SCV003522559 likely benign not provided 2024-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035482 SCV004922012 uncertain significance Inborn genetic diseases 2023-10-05 criteria provided, single submitter clinical testing The c.8344G>A (p.D2782N) alteration is located in exon 59 (coding exon 58) of the CDH23 gene. This alteration results from a G to A substitution at nucleotide position 8344, causing the aspartic acid (D) at amino acid position 2782 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001279072 SCV001466133 uncertain significance Usher syndrome type 1 2020-04-17 no assertion criteria provided clinical testing

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