ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.69-17C>A

gnomAD frequency: 0.00003  dbSNP: rs371858126
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431899 SCV000512773 likely benign not specified 2015-11-12 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.
Invitae RCV001861492 SCV002283097 uncertain significance Neuronal ceroid lipofuscinosis 2022-07-25 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the CTSD gene. It does not directly change the encoded amino acid sequence of the CTSD protein. This variant is present in population databases (rs371858126, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CTSD-related conditions. ClinVar contains an entry for this variant (Variation ID: 377758). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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