ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2223C>G (p.Asn741Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004596068 SCV005091098 likely pathogenic Marfan syndrome 2024-03-21 criteria provided, single submitter clinical testing PM1, PM2, PM5, PP3 - Variant absent from gnomAD. In silico prediction tools estimated that the variant could be damaging for the protein function/stracture. Higly relevant to the patient's phenotype.

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