Submissions for variant NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr)

gnomAD frequency: 0.00470  dbSNP: rs201323100

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000267568	SCV000385269	benign	Focal segmental glomerulosclerosis 5	2018-01-12	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.
GeneDx	RCV000419174	SCV000513286	benign	not specified	2017-12-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000860568	SCV001000659	benign	Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001727680	SCV001470853	benign	not provided	2023-08-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002392855	SCV002696664	likely benign	Inborn genetic diseases	2019-09-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV000860568	SCV002804207	likely benign	Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E	2022-05-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001727680	SCV003917351	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	INF2: BS1, BS2
Clinical Genetics, Academic Medical Center	RCV000419174	SCV001923780	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727680	SCV001970198	likely benign	not provided		no assertion criteria provided	clinical testing