Submissions for variant NM_001122681.2(SH3BP2):c.1024C>T (p.Arg342Ter)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV003856518	SCV004697058	uncertain significance	Fibrous dysplasia of jaw	2024-01-11	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg342*) in the SH3BP2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SH3BP2 cause disease. This variant is present in population databases (rs374788058, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with SH3BP2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences	RCV003893517	SCV004708895	uncertain significance	SH3BP2-related disorder	2024-02-05	criteria provided, single submitter	clinical testing	The SH3BP2 c.1024C>T variant is predicted to result in premature protein termination (p.Arg342*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.