Submissions for variant NM_001122681.2(SH3BP2):c.1103C>A (p.Pro368Gln)

gnomAD frequency: 0.00001  dbSNP: rs781072584

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000802504	SCV000942338	uncertain significance	Fibrous dysplasia of jaw	2022-08-31	criteria provided, single submitter	clinical testing	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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 647885). This variant has not been reported in the literature in individuals affected with SH3BP2-related conditions. This variant is present in population databases (rs781072584, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 368 of the SH3BP2 protein (p.Pro368Gln).
CeGaT Center for Human Genetics Tuebingen	RCV003326514	SCV004034042	uncertain significance	not provided	2023-08-01	criteria provided, single submitter	clinical testing	SH3BP2: PM2