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 2019-08-29 criteria provided, single submitter curation The Asp2402Asn is a novel variant found in one individual with MFS and is absent from large population studies (ExAC no frequency). There is a known different missense variant at 2402 codon (Asp2402His) that was reported on the dbSNP (rs1057524757) and ClinVar (Variation ID: 393048). The missense is affecting conserved residues important for calcium binding in EGF domains (PMID: 20591885). Prediction tools like Provean, SIFT, PolyPhen2 and MutationTaster show damaging effect. Based on this evidences c.7204G>A (Asp2402Asn) variant is classified as likely pathogenic.

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