ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.7204G>A (p.Asp2402Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations RCV000790617 SCV000925664 likely pathogenic Marfan syndrome 2019-06-28 criteria provided, single submitter curation The Asp2402Asn variant in FBN1 is absent from large population studies. Our evaluation was made with in silico method by prediction programs: NetGene2, provean, sift, polyphen2. Additionally, FBN1 gene is more intolerant to missense variants (ExAC Z score = 5.33). We evaluate c.7204G>A (Asp2402Asn) variant to be likely pathogenic.

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