ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.853-2A>G

dbSNP: rs1475322504
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588528 SCV000698527 pathogenic Cystinosis 2017-02-02 criteria provided, single submitter clinical testing Variant summary: The CTNS c.853-2A>G variant involves the alteration of a conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 4/4 splice prediction tools predict the complete loss of a canonical 5' splice acceptor site. These predictions have been confired by functional studies showing patient RNA having a transcript that contains the first 41bp of IVS10 and a deletion of the first 26 bp of exon11. This variant is absent in 118932 control chromosomes but has been reported in a severely affected proband in the literature. Taken together, this variant is classified as pathogenic.
Counsyl RCV000666666 SCV000790995 likely pathogenic Nephropathic cystinosis 2017-04-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV000666666 SCV004212951 pathogenic Nephropathic cystinosis 2023-09-17 criteria provided, single submitter clinical testing

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