ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.971-1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Congenital and Hereditary Diseases, Charles Nicolle Hospital RCV001375476 SCV001554457 likely pathogenic Nephropathic cystinosis 2021-03-01 no assertion criteria provided clinical testing DNA sequencing revealed novel homozygous splicing mutation NM_001031681: c.971-1G>C in 6 patients belonging to 4 families. All parents of these patients were consanguineous and were confirmed to be heterozygous carriers. The splicing NM_001031681: c.971-1G>C segregated according to a recessive model with full penetrance. NM_001031681: c.971-1G>C was not referenced in the NHLBI Exome Variant Server or in the ClinVar database. Analysis of NM_001031681: c.971-1G>C with Alamut, predicted change at acceptor site of intron 11, 1 bp downstream and the activation of a cryptic acceptor site at +5 bp. The predicted protein will be p.D324VfsX31.

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