Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV002306745 | SCV002602775 | likely pathogenic | Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis | 2022-02-01 | criteria provided, single submitter | clinical testing | NM_004937.2(CTNS):c.286C>T(Q96*) is expected to be pathogenic in the context of cystinosis. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in CTNS, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening. |
Invitae | RCV003099148 | SCV003239664 | pathogenic | Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases | 2022-10-14 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with CTNS-related conditions. This sequence change creates a premature translational stop signal (p.Gln96*) in the CTNS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CTNS are known to be pathogenic (PMID: 9537412, 27102039). |
Baylor Genetics | RCV004572228 | SCV005058611 | likely pathogenic | Nephropathic cystinosis | 2024-02-28 | criteria provided, single submitter | clinical testing |