ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.61G>T (p.Glu21Ter)

dbSNP: rs2150889009
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002551566 SCV001589685 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2022-02-03 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. ClinVar contains an entry for this variant (Variation ID: 1075103). 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.Glu21*) 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 RCV003473988 SCV004212978 likely pathogenic Nephropathic cystinosis 2023-03-07 criteria provided, single submitter clinical testing

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