ClinVar Miner

Submissions for variant NM_003793.4(CTSF):c.64G>T (p.Ala22Ser)

dbSNP: rs1472278206
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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 RCV003058598 SCV003448375 uncertain significance Neuronal ceroid lipofuscinosis 13 2022-04-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CTSF-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 22 of the CTSF protein (p.Ala22Ser).
Ambry Genetics RCV003060391 SCV003599067 uncertain significance Inborn genetic diseases 2021-12-17 criteria provided, single submitter clinical testing The c.64G>T (p.A22S) alteration is located in exon 1 (coding exon 1) of the CTSF gene. This alteration results from a G to T substitution at nucleotide position 64, causing the alanine (A) at amino acid position 22 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004779418 SCV005389034 uncertain significance not provided 2024-03-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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