ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.2849G>C (p.Cys950Ser)

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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 RCV000791343 SCV000930639 likely pathogenic Marfan syndrome 2019-08-01 criteria provided, single submitter clinical testing The NM_000138.4:c.2849G>C (p.Cys950Ser) variant is absent from large population studies. Cysteine is located in EGF-like domain with Disulfide bonds of 937-950, meaning any substitution of Cysteine will likely results in structural deformation. Computational resources NetGene2, PolyPhen2, Provean show damaging effect. Functional study deemed necessary.

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