ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.61+5G>A

dbSNP: rs1407498555
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002551408 SCV001201649 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2023-04-09 criteria provided, single submitter clinical testing This variant is also known as c.400+5G>A. This variant has been observed in individual(s) with cystinosis (PMID: 18752449, 19863563; Invitae). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change falls in intron 3 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 is likely to result in the loss of the initiator methionine. ClinVar contains an entry for this variant (Variation ID: 836956). For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 3, and is expected to result in the loss of the initiator methionine (PMID: 18752449).
Fulgent Genetics, Fulgent Genetics RCV002245839 SCV002812611 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2022-03-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003467715 SCV004215225 pathogenic Nephropathic cystinosis 2022-08-10 criteria provided, single submitter clinical testing

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