ClinVar Miner

Submissions for variant NM_006493.2(CLN5):c.52C>T (p.Gln18Ter)

gnomAD frequency: 0.00008  dbSNP: rs773979248
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483404 SCV000570755 uncertain significance not provided 2019-06-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000798755 SCV000938385 uncertain significance Neuronal ceroid lipofuscinosis 2022-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln18*) in the CLN5 gene. However, it is currently unclear if variants that occur in this region of the gene cause disease. This variant is present in population databases (rs773979248, gnomAD 0.05%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with CLN5-related conditions. ClinVar contains an entry for this variant (Variation ID: 421520). 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.
Genome-Nilou Lab RCV001785627 SCV002027048 uncertain significance Neuronal ceroid lipofuscinosis 5 2021-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001785627 SCV002783087 uncertain significance Neuronal ceroid lipofuscinosis 5 2021-12-10 criteria provided, single submitter clinical testing

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