Submissions for variant NM_003793.4(CTSF):c.683C>G (p.Thr228Arg)

gnomAD frequency: 0.00105  dbSNP: rs148611356

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000487825	SCV000574891	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	CTSF: BS2
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085523	SCV000773156	likely benign	Neuronal ceroid lipofuscinosis 13	2024-12-12	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000487825	SCV000801078	uncertain significance	not provided	2022-06-23	criteria provided, single submitter	clinical testing	BS1
Ambry Genetics	RCV002318587	SCV000849550	uncertain significance	Inborn genetic diseases	2018-07-09	criteria provided, single submitter	clinical testing	The p.T228R variant (also known as c.683C>G), located in coding exon 5 of the CTSF gene, results from a C to G substitution at nucleotide position 683. The threonine at codon 228 is replaced by arginine, an amino acid with similar properties. This amino acid position is well conserved through mammals but not in all available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx	RCV000487825	SCV001773859	uncertain significance	not provided	2024-10-24	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity	RCV001085523	SCV003828740	uncertain significance	Neuronal ceroid lipofuscinosis 13	2020-06-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003932784	SCV004753170	likely benign	CTSF-related disorder	2023-08-22	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).