ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg)

dbSNP: rs369379727
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001214532 SCV001386216 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2617 of the CDH23 protein (p.Gly2617Arg). This variant is present in population databases (rs369379727, gnomAD 0.006%). 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: 944185). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt 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.
Genome-Nilou Lab RCV001580572 SCV001810321 uncertain significance Autosomal recessive nonsyndromic hearing loss 12 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001580571 SCV001810322 uncertain significance Usher syndrome type 1D 2021-07-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484170 SCV002787737 uncertain significance Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2021-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002561847 SCV003753615 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.7849G>C (p.G2617R) alteration is located in exon 55 (coding exon 54) of the CDH23 gene. This alteration results from a G to C substitution at nucleotide position 7849, causing the glycine (G) at amino acid position 2617 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001214532 SCV005190826 uncertain significance not provided criteria provided, single submitter not provided
Clinical Genetics Laboratory, Skane University Hospital Lund RCV001214532 SCV005197421 uncertain significance not provided 2022-05-27 criteria provided, single submitter clinical testing
GeneDx RCV001214532 SCV005328321 uncertain significance not provided 2024-02-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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
Natera, Inc. RCV001828709 SCV002088740 uncertain significance Usher syndrome type 1 2020-01-18 no assertion criteria provided clinical testing

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