ClinVar Miner

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

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038190 SCV001201649 pathogenic Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 2019-12-16 criteria provided, single submitter clinical testing 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, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with CTNS-related conditions (PMID: 18752449, 19863563, Invitae). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 18752449). For these reasons, this variant has been classified as Pathogenic.

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