ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6272G>A (p.Gly2091Asp)

dbSNP: rs878853687
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000234135 SCV000283641 likely pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-03-04 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with Marfan syndrome (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 237101). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with aspartic acid at codon 2091 of the FBN1 protein (p.Gly2091Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid.

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