Submissions for variant NM_016023.5(OTUD6B):c.658G>A (p.Val220Ile)

gnomAD frequency: 0.00169  dbSNP: rs143121527

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000879625	SCV001022670	likely benign	not provided	2019-02-27	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002507549	SCV002807323	likely benign	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	2021-08-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002539285	SCV003754793	uncertain significance	Inborn genetic diseases	2020-10-29	criteria provided, single submitter	clinical testing	The c.748G>A (p.V250I) alteration is located in exon 5 (coding exon 5) of the OTUD6B gene. This alteration results from a G to A substitution at nucleotide position 748, causing the valine (V) at amino acid position 250 to be replaced by an isoleucine (I). Based on data from the Genome Aggregation Database (gnomAD) database, the OTUD6B c.748G>A alteration was observed in 0.14% (387/268968) of total alleles studied, with a frequency of 0.26% (315/121800) in the European (non-Finnish) subpopulation. This amino acid position is not well conserved and isoleucine (I) is the reference amino acid in several species. The p.V250I alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV000879625	SCV004184739	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	OTUD6B: BP4
Breakthrough Genomics, Breakthrough Genomics	RCV000879625	SCV005221709	likely benign	not provided		criteria provided, single submitter	not provided