ClinVar Miner

Submissions for variant NM_001122681.2(SH3BP2):c.907C>G (p.Pro303Ala)

gnomAD frequency: 0.00003  dbSNP: rs146469368
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001063507 SCV001228355 uncertain significance Fibrous dysplasia of jaw 2019-11-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SH3BP2-related conditions. This variant is present in population databases (rs146469368, ExAC 0.02%). This sequence change replaces proline with alanine at codon 303 of the SH3BP2 protein (p.Pro303Ala). The proline residue is moderately conserved and there is a small physicochemical difference between proline and alanine. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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