ClinVar Miner

Submissions for variant NM_003793.4(CTSF):c.130del (p.Arg44fs)

dbSNP: rs1857984449
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002271804 SCV002555782 likely pathogenic Neuronal ceroid lipofuscinosis 2022-06-01 criteria provided, single submitter clinical testing Variant summary: CTSF c.130delC (p.Arg44AlafsX104) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. A truncation downstream of this position has been associated with Kufs disease, type B in HGMD. The variant was absent in 596 control chromosomes (gnomAD). To our knowledge, no occurrence of c.130delC in individuals affected with Neuronal Ceroid-Lipofuscinosis (Batten Disease) and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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