ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.971-12G>A

dbSNP: rs375952052
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002528837 SCV000751432 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2023-12-16 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the CTNS gene. It does not directly change the encoded amino acid sequence of the CTNS protein. RNA analysis indicates that this variant induces altered splicing and likely disrupts the C-terminus of the protein. This variant is present in population databases (rs375952052, gnomAD 0.006%). This variant has been observed in individual(s) with cystinosis (PMID: 10556299, 22450360, 25326109). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.1310-12G>A. ClinVar contains an entry for this variant (Variation ID: 526030). Studies have shown that this variant results in the inclusion of the last 10 bp of intron 11 and introduces a new termination codon (PMID: 12442267). However the mRNA is not expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000664494 SCV000788462 pathogenic Nephropathic cystinosis 2017-02-01 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000664494 SCV000889960 pathogenic Nephropathic cystinosis 2016-08-30 criteria provided, single submitter clinical testing
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi RCV001843534 SCV002102787 pathogenic Infantile nephropathic cystinosis 2022-03-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV000664494 SCV004212967 pathogenic Nephropathic cystinosis 2024-02-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829749 SCV002093240 pathogenic Cystinosis 2020-02-19 no assertion criteria provided clinical testing

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