ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. 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).

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