Submissions for variant NM_015178.3(RHOBTB2):c.1681G>A (p.Gly561Ser)

gnomAD frequency: 0.00004  dbSNP: rs372306607

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002083025	SCV002377744	likely benign	not provided	2024-11-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003426307	SCV004116938	uncertain significance	RHOBTB2-related disorder	2023-08-03	criteria provided, single submitter	clinical testing	The RHOBTB2 c.1747G>A variant is predicted to result in the amino acid substitution p.Gly583Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0085% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-22868111-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Breakthrough Genomics, Breakthrough Genomics	RCV002083025	SCV005222854	likely benign	not provided		criteria provided, single submitter	not provided
GenomeConnect - Invitae Patient Insights Network	RCV003483881	SCV004228768	not provided	Developmental and epileptic encephalopathy, 64		no assertion provided	phenotyping only	Variant interpreted as Uncertain significance and reported on 11-27-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.