ClinVar Miner

Submissions for variant NM_003793.4(CTSF):c.19C>T (p.Leu7Phe)

gnomAD frequency: 0.00019  dbSNP: rs544669445
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711338 SCV000841686 uncertain significance not provided 2017-11-13 criteria provided, single submitter clinical testing
GeneDx RCV000711338 SCV001783847 uncertain significance not provided 2024-09-05 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002534495 SCV003247191 uncertain significance Neuronal ceroid lipofuscinosis 13 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 7 of the CTSF protein (p.Leu7Phe). This variant is present in population databases (rs544669445, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with CTSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 585732). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002532911 SCV003743674 uncertain significance Inborn genetic diseases 2022-12-28 criteria provided, single submitter clinical testing The c.19C>T (p.L7F) alteration is located in exon 1 (coding exon 1) of the CTSF gene. This alteration results from a C to T substitution at nucleotide position 19, causing the leucine (L) at amino acid position 7 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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