ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1087del (p.Val363fs)

dbSNP: rs747955135
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755909 SCV000883559 likely pathogenic not provided 2018-04-24 criteria provided, single submitter clinical testing The p.Val363fs variant (rs747955135) was reported in one homozygote patient with Usher Syndrome type I (Astuto 2002). This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.01 percent in the Latino population (identified on 5 out of 33,582 chromosomes). This variant causes a frameshift by deleting a single nucleotide in exon 7 predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Given the current evidence, this variant is considered to be likely pathogenic.
GeneDx RCV000755909 SCV001168578 pathogenic not provided 2023-05-31 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 12075507)
Invitae RCV000755909 SCV001391376 pathogenic not provided 2023-12-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val363Serfs*20) in the CDH23 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDH23 are known to be pathogenic (PMID: 11138009, 21940737). This variant is present in population databases (rs747955135, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 12075507). ClinVar contains an entry for this variant (Variation ID: 618009). For these reasons, this variant has been classified as Pathogenic.
Wangler Lab, Baylor College of Medicine RCV002467453 SCV002762676 pathogenic Autosomal recessive nonsyndromic hearing loss 12 criteria provided, single submitter clinical testing The frameshift CDH23 variant at c.1087del (p.V363Sfs*20) was seen on exome through the Texome project (R01HG011795). It was previously reported in individuals with Usher syndrome type 1(PMID: 12075507).This variant has not been observed in gnomAD (PM2). This frameshift variant is located in exon 11 of 70 and is predicted to be deleterious (PVS1). We classify this variant as pathogenic.
Baylor Genetics RCV003472274 SCV004210645 pathogenic Pituitary adenoma 5, multiple types 2023-08-09 criteria provided, single submitter clinical testing

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