ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1461+1G>A

gnomAD frequency: 0.00001  dbSNP: rs764951306
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001298358 SCV001487412 uncertain significance Myopathy, centronuclear, 2 2023-10-08 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 16 of the BIN1 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 BIN1 cause disease. This variant is present in population databases (rs764951306, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BIN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1001992). 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.
CeGaT Center for Human Genetics Tuebingen RCV001532404 SCV001747958 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001298358 SCV002022044 likely pathogenic Myopathy, centronuclear, 2 2020-10-19 criteria provided, single submitter clinical testing

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