ClinVar Miner

Submissions for variant NM_003793.4(CTSF):c.160C>A (p.Arg54=)

dbSNP: rs776443007
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001890512 SCV002155323 likely benign Neuronal ceroid lipofuscinosis 13 2024-10-24 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001890512 SCV003919863 uncertain significance Neuronal ceroid lipofuscinosis 13 2022-07-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.01% (3/15270) (https://gnomad.broadinstitute.org/variant/11-66568327-G-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:1382735). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx RCV005235602 SCV005882188 uncertain significance not provided 2024-09-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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