ClinVar Miner

Submissions for variant NM_003793.4(CTSF):c.200_205dup (p.Gly67_Arg68dup)

dbSNP: rs772656687
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002312765 SCV000847188 uncertain significance Inborn genetic diseases 2016-07-13 criteria provided, single submitter clinical testing The c.200_205dupGCCGCG variant (also known as p.G67_R68dup), located in coding exon 1 of the CTSF gene, results from an in-frame duplication of GCCGCG at nucleotide positions 200 to 205. This results in the duplication of 2 extra residues (GR) between codons 67 and 68. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 2415 samples (4830 alleles) with coverage at this position. These amino acid positions are well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001434056 SCV001636857 likely benign Neuronal ceroid lipofuscinosis 13 2024-03-20 criteria provided, single submitter clinical testing
GeneDx RCV001731905 SCV001982581 uncertain significance not provided 2023-05-24 criteria provided, single submitter clinical testing In-frame duplication of 2 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Mayo Clinic Laboratories, Mayo Clinic RCV001731905 SCV004226190 uncertain significance not provided 2023-02-24 criteria provided, single submitter clinical testing PM4

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