ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1371+1G>T

gnomAD frequency: 0.00004  dbSNP: rs556129959
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000312478 SCV000339690 pathogenic not provided 2016-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001213324 SCV001384950 uncertain significance Myopathy, centronuclear, 2 2020-03-24 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. This sequence change affects a donor splice site in intron 15 of the BIN1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with BIN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 286314). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in BIN1 cause disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant is present in population databases (rs556129959, ExAC 0.1%).

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