ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.768dup (p.Val257fs)

dbSNP: rs1567713938
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000735813 SCV004212938 likely pathogenic Nephropathic cystinosis 2023-10-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003768260 SCV004586944 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2023-01-27 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. ClinVar contains an entry for this variant (Variation ID: 599228). 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.Val257Serfs*39) 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).
Institute of Human Genetics, Cologne University RCV000735813 SCV000863546 likely pathogenic Nephropathic cystinosis no assertion criteria provided clinical testing

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