ClinVar Miner

Submissions for variant NC_000017.11:g.(?_3647424)_(3648951_?)del

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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 RCV005092456 SCV000964845 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2018-10-23 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 4 to 5 of the CTNS gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with CTNS-related disease. Loss-of-function variants in CTNS are known to be pathogenic (PMID: 9537412, 27102039). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001381613 SCV001580068 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2018-10-14 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 4 to 5 of the CTNS gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with CTNS-related disease. Loss-of-function variants in CTNS are known to be pathogenic (PMID: 9537412, 27102039). For these reasons, this variant has been classified as Pathogenic.

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