Submissions for variant NM_022489.4(INF2):c.2458C>T (p.Arg820Trp)

gnomAD frequency: 0.00247  dbSNP: rs79327775

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249230	SCV000314096	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000360138	SCV000385285	benign	Focal segmental glomerulosclerosis 5	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	RCV000530530	SCV000652088	benign	Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E	2025-02-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001697602	SCV000720392	benign	not provided	2019-05-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001697602	SCV001472575	likely benign	not provided	2020-01-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002446493	SCV002734565	likely benign	Inborn genetic diseases	2019-08-30	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
CeGaT Center for Human Genetics Tuebingen	RCV001697602	SCV004033356	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	INF2: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV001697602	SCV005211535	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001697602	SCV001924925	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001697602	SCV001963029	likely benign	not provided		no assertion criteria provided	clinical testing