ClinVar Miner

Submissions for variant NC_000015.10:g.48427684A>C

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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 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.

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