ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.683TCT[1] (p.Phe229del) (rs1057519591)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000417103 SCV000494646 likely pathogenic Neuronal ceroid lipofuscinosis 10 2015-11-06 criteria provided, single submitter clinical testing The identified variant (Phe229del) has bever been described before. However, a missense variant affecting the same amino acid (Phe229) has been reported in a child presenting a progressive psychomotor deficience (PMID 16686649).

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