Submissions for variant NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg)

gnomAD frequency: 0.00123  dbSNP: rs141518457

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000292514	SCV000449209	benign	Fibrous dysplasia of jaw	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	RCV000292514	SCV000623928	likely benign	Fibrous dysplasia of jaw	2023-12-28	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000292514	SCV000898971	uncertain significance	Fibrous dysplasia of jaw	2021-03-30	criteria provided, single submitter	clinical testing	SH3BP2 NM_003023.4 exon 8 p.Gly313Arg (c.937G>A): This variant has not been reported in the literature but is present in 0.1% (204/126524) of European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs141518457). This variant is present in ClinVar (Variation ID:348582) Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx	RCV003238756	SCV003936246	uncertain significance	not provided	2022-12-27	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen	RCV003238756	SCV004147548	benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	SH3BP2: BS1, BS2
Ambry Genetics	RCV004021961	SCV004946625	uncertain significance	Inborn genetic diseases	2021-08-16	criteria provided, single submitter	clinical testing	The c.937G>A (p.G313R) alteration is located in exon 8 (coding exon 7) of the SH3BP2 gene. This alteration results from a G to A substitution at nucleotide position 937, causing the glycine (G) at amino acid position 313 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.