ClinVar Miner

Submissions for variant NC_000017.11:g.(?_3636418)_(3656815_?)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 RCV005091848 SCV000751437 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2017-08-18 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-9 and the first 166 nucleotides of exon 10 of the CTNS gene, which includes the initiator codon. The 5' end of this event extends beyond the assayed region for this gene and therefore may encompass additional genes. This is expected to result in an absent or disrupted protein product. This variant is likely the common 57-Kb deletion, which is a known cause of cystinosis and has been associated with dysregulation of transcription in PBMC isolated fromcystinosis patients (PMID: 21546516). 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 RCV003117439 SCV003793881 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2017-08-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CTNS are known to be pathogenic (PMID: 9537412, 27102039). This variant is likely the common 57-Kb deletion, which is a known cause of cystinosis and has been associated with dysregulation of transcription in PBMC isolated fromcystinosis patients (PMID: 21546516). This variant is a gross deletion of the genomic region encompassing exons 1-9 and the first 166 nucleotides of exon 10 of the CTNS gene, which includes the initiator codon. The 5' end of this event extends beyond the assayed region for this gene and therefore may encompass additional genes. This is expected to result in an absent or disrupted protein product.

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