ClinVar Miner

Submissions for variant NM_003793.4(CTSF):c.1028C>T (p.Ser343Leu)

gnomAD frequency: 0.00001  dbSNP: rs200646712
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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 RCV002008249 SCV002275172 uncertain significance Neuronal ceroid lipofuscinosis 13 2021-07-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CTSF-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with leucine at codon 343 of the CTSF protein (p.Ser343Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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