ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.1481C>A (p.Thr494Lys)

gnomAD frequency: 0.00001  dbSNP: rs1752532671
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001509254 SCV001715866 uncertain significance not provided 2020-02-05 criteria provided, single submitter clinical testing
GeneDx RCV001509254 SCV005078333 uncertain significance not provided 2023-12-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 19006240, 18767143)

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