ClinVar Miner

Submissions for variant NM_001122681.2(SH3BP2):c.428+1G>C

gnomAD frequency: 0.00001  dbSNP: rs769264475
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001295724 SCV001484666 uncertain significance Fibrous dysplasia of jaw 2023-02-13 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the SH3BP2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), 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 (rs769264475, gnomAD 0.004%). 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: 999698). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV001295724 SCV002781363 uncertain significance Fibrous dysplasia of jaw 2022-05-23 criteria provided, single submitter clinical testing

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