ClinVar Miner

Submissions for variant NC_000015.10:g.48437317C>T

dbSNP: rs1085307875
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre of Medical Genetics, University of Antwerp RCV002246049 SCV002025386 uncertain significance Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PM8, PP4
Labcorp Genetics (formerly Invitae), Labcorp RCV002541219 SCV003236410 likely pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-09-23 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with FBN1-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 52 of the FBN1 gene. It does not directly change the encoded amino acid sequence of the FBN1 protein. It affects a nucleotide within the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1325437). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 may disrupt the consensus splice site.

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