ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) (rs143282422)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037090 SCV000060747 benign not specified 2013-01-30 criteria provided, single submitter clinical testing Ala366Thr in Exon 11A of CDH23: This variant is not expected to have clinical si gnificance because it has been identified in 1.0% (88/8560) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs143282422).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000037090 SCV000225409 benign not specified 2015-01-13 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000037090 SCV000313961 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000037090 SCV000512535 benign not specified 2018-01-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513678 SCV000610877 likely benign not provided 2017-09-07 criteria provided, single submitter clinical testing
Invitae RCV000513678 SCV001110058 benign not provided 2020-11-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282825 SCV001157266 benign none provided 2020-01-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001105079 SCV001261997 uncertain significance Usher syndrome type 1D 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001105080 SCV001261998 uncertain significance Deafness, autosomal recessive 12 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Athena Diagnostics Inc RCV000037090 SCV001474985 benign not specified 2020-07-24 criteria provided, single submitter clinical testing
INGEBI, INGEBI / CONICET RCV001544539 SCV001763585 benign Nonsyndromic hearing loss and deafness 2021-07-15 criteria provided, single submitter clinical testing Based on ACMG/AMP guidelines and Hearing Loss Expert Panel specific criteria:The filter allele frequency of c.1096 G>A (A366T) in CDH23 gene is 500/10356 (4,5% with 95% CI) in Ashkenazi Jewish ethnic group in gnomad population database, witch meets the criteria for BA1. Computational evidence is not suffcient to apply to PP3 either BP4 (REVEL:0.198). This variant has been identifiec with c.3293A>G in CDH23 gene in an Usher type 1D patient with unkown phase (PMID:18429043 ). Since c.3293A>G is classified as VUS, PM3 is not applied. Also, A366T was detected in hetercygous state in three usher patients without other variants (PMID: 15660226). Considering BA1, the variant is classified as Benign.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000513678 SCV001798949 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000037090 SCV001958882 benign not specified no assertion criteria provided clinical testing

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