ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7087T>G (p.Cys2363Gly)

dbSNP: rs1597517935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations RCV000851392 SCV000957723 likely pathogenic Marfan syndrome 2019-08-01 criteria provided, single submitter clinical testing The c.7087T>G (p.C2363G) variant is absent from large population studies. C2363 is connected with disulfide bond with C2339 in TGFBP domain. Cleavage of the disulfide bonds affects protein structure stabilization. Different amino acid substitution c.7088G>A (p.C2363Y) was reported in the Database of Pathogenic variants (DPV:8451, DPVS:8819.1) with a Clinical Significance Citation (PMID:29848614, 12938084). Various computational tools like NetGene2, Provean, PolyPhen2 and MutationTaster show a damaging effect of p.C2363G variant. Without functional study, we evaluate p.C2363G as Likely Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV000851392 SCV004242488 likely pathogenic Marfan syndrome 2023-12-27 criteria provided, single submitter clinical testing Criteria applied: PM5,PS4_SUP,PM2_SUP,PP2,PP3

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