ClinVar Miner

Submissions for variant NC_000015.10:g.48456730A>G

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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 RCV000851489 SCV000930691 likely pathogenic Marfan syndrome 2019-08-01 criteria provided, single submitter clinical testing The c.5329T>C(p.Cys1777Arg) variant is absent in large population studies. There is a known other AA substitution (p.Cys1777Tyr) but at a next position (c.5330G>A), which has been reported in ClinVar (rs1060501069, Variation ID:406341) with a well-established evidences on Likely pathogenic classification of amino acid substitution. Cysteine is located in very conservative residue of EGF-like domain of Fibrillin-1. Alterations in such domains result in mutation with high disease-cause chances (DOI:10.1002/humu.1380010504). Additionally, computational results of NetGene2, Provean, SIFT, PolyPhen2 for Cys1777Arg show damaging effect. Based on this evidences we evaluate c.5329T>C/N (p.Cys1777Arg) as likely pathogenic. Functional study deemed necessary.

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