ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6093C>G (p.Thr2031=)

gnomAD frequency: 0.00001  dbSNP: rs1131691293
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493271 SCV000581802 uncertain significance not provided 2017-05-03 criteria provided, single submitter clinical testing The c.6093 C>G variant in the FBN2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.6093 C>G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In-silico splice prediction models predict that c.6093 C>G may create or strengthen a cryptic splice donor site in exon 48, which may supplant the natural donor site. However, in the absence of RNA/functional studies, the actual effect of the c.6093 C>G change in this individual is unknown. We interpret c.6093 C>G as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002524017 SCV003465664 likely benign Congenital contractural arachnodactyly 2024-12-19 criteria provided, single submitter clinical testing

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