ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.833_835dup (p.Glu278_Val279insGlu)

dbSNP: rs2493817210
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002982987 SCV003294510 uncertain significance Neuronal ceroid lipofuscinosis 2023-08-10 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 2079958). This variant has not been reported in the literature in individuals affected with CTSD-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.833_835dup, results in the insertion of 1 amino acid(s) of the CTSD protein (p.Glu278dup), but otherwise preserves the integrity of the reading frame.

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