ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.3724+4G>C

gnomAD frequency: 0.00003  dbSNP: rs993620203
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001993976 SCV002263430 uncertain significance not provided 2021-12-13 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with FLNB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 21 of the FLNB gene. It does not directly change the encoded amino acid sequence of the FLNB protein. It affects a nucleotide within the consensus splice site.
Fulgent Genetics, Fulgent Genetics RCV002497944 SCV002814338 uncertain significance Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Spondylocarpotarsal synostosis syndrome; Larsen syndrome 2021-07-22 criteria provided, single submitter clinical testing

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