ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3974-9A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003140468 SCV003807190 likely pathogenic Congenital contractural arachnodactyly 2022-06-17 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PM6 moderated, PP3 supporting, PP4
Labcorp Genetics (formerly Invitae), Labcorp RCV003140468 SCV004409940 uncertain significance Congenital contractural arachnodactyly 2022-10-27 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with FBN2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 30 of the FBN2 gene. It does not directly change the encoded amino acid sequence of the FBN2 protein.

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