ClinVar Miner

Submissions for variant NM_001122681.2(SH3BP2):c.993_994del (p.Cys331_Asp332delinsTer)

dbSNP: rs1171967366
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001944285 SCV002209830 uncertain significance Fibrous dysplasia of jaw 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys331*) 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 (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with SH3BP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1433159). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Fulgent Genetics, Fulgent Genetics RCV001944285 SCV002780708 uncertain significance Fibrous dysplasia of jaw 2022-04-12 criteria provided, single submitter clinical testing

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