ClinVar Miner

Submissions for variant NM_003793.4(CTSF):c.1350del (p.Asn451fs)

dbSNP: rs1565311637
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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 RCV000704629 SCV000833585 uncertain significance Neuronal ceroid lipofuscinosis 13 2018-02-08 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CTSF gene (p.Asn451Thrfs*24). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 34 amino acids of the CTSF protein. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. 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. This variant has not been reported in the literature in individuals with CTSF-related disease. This variant is not present in population databases (ExAC no frequency).

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