ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.140+1G>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002283924 SCV002573134 likely pathogenic Nephropathic cystinosis 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Canonical splice site is predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.
Baylor Genetics RCV002283924 SCV005058610 likely pathogenic Nephropathic cystinosis 2024-02-29 criteria provided, single submitter clinical testing

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