ClinVar Miner

Submissions for variant NM_004937.3(CTNS):c.1036_1047del (p.Asp346_Phe349del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003064379 SCV003443697 uncertain significance Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases 2022-07-16 criteria provided, single submitter clinical testing This variant, c.1036_1047del, results in the deletion of 4 amino acid(s) of the CTNS protein (p.Asp346_Phe349del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has been observed in individual(s) with cystinosis (PMID: 12442267). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.1375-1386del12(DVVF346-349del). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects CTNS function (PMID: 15128704). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV003475497 SCV004212976 likely pathogenic Nephropathic cystinosis 2024-03-14 criteria provided, single submitter clinical testing

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