Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001566890 | SCV001790477 | pathogenic | not provided | 2019-08-06 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect by a cryptic intronic splice site 103bp downstream, which indicates a truncation and loss of function of CDH23 (Bolz et al., 2001); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31706454, 31231422, 12075507, 11138009, 18273900, 18429043, 27599893, 29986705) |
Labcorp Genetics |
RCV001566890 | SCV002247154 | pathogenic | not provided | 2023-02-28 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 1496 of the CDH23 protein (p.Gln1496His). This variant also falls at the last nucleotide of exon 36, which is part of the consensus splice site for this exon. This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with Usher syndrome (PMID: 11138009, 30459346, 31231422). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 4915). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this missense change alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 11138009). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003472971 | SCV004210642 | pathogenic | Pituitary adenoma 5, multiple types | 2024-03-27 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000005197 | SCV000025374 | pathogenic | Usher syndrome type 1D | 2001-01-01 | no assertion criteria provided | literature only | |
Natera, |
RCV001835621 | SCV002087434 | pathogenic | Usher syndrome type 1 | 2020-01-24 | no assertion criteria provided | clinical testing |