ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.828-5C>T (rs762444592)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441533 SCV000518469 likely benign not specified 2016-01-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000720784 SCV000851666 uncertain significance Seizures 2018-11-16 criteria provided, single submitter clinical testing The c.828-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 7 in the CTSD gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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