ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.891C>T (p.Gly297=) (rs755183661)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469818 SCV000549913 uncertain significance Neuronal ceroid lipofuscinosis 2016-06-24 criteria provided, single submitter clinical testing This sequence change affects codon 297 of the CTSD mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CTSD protein. This variant is present in population databases (rs755183661, ExAC <0.01%) but has not been reported in the literature in individuals with a CTSD-related disease. Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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