Submissions for variant NM_001288705.3(CSF1R):c.764A>T (p.Asn255Ile)

gnomAD frequency: 0.00086  dbSNP: rs146406037

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000401860	SCV000455251	benign	Hereditary diffuse leukoencephalopathy with spheroids	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000900257	SCV001044564	likely benign	not provided	2025-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002523513	SCV003650360	uncertain significance	Inborn genetic diseases	2022-08-09	criteria provided, single submitter	clinical testing	The c.764A>T (p.N255I) alteration is located in exon 6 (coding exon 5) of the CSF1R gene. This alteration results from a A to T substitution at nucleotide position 764, causing the asparagine (N) at amino acid position 255 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic	RCV000900257	SCV004227148	uncertain significance	not provided	2023-03-30	criteria provided, single submitter	clinical testing	BP4
CeGaT Center for Human Genetics Tuebingen	RCV000900257	SCV005093364	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	CSF1R: BP4
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000900257	SCV002035254	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000900257	SCV002036245	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003912501	SCV004729264	likely benign	CSF1R-related disorder	2022-07-07	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).