ClinVar Genomic variation as it relates to human health
NM_000138.5(FBN1):c.1708T>C (p.Cys570Arg)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
for
Marfan syndrome
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
FBN1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
7531 | 7864 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 11, 2019 | RCV001229193.7 | |
Uncertain significance (1) |
|
Sep 1, 2022 | RCV002283533.1 | |
Pathogenic (1) |
|
Feb 12, 2021 | RCV002402716.2 | |
Pathogenic (1) |
|
Nov 16, 2023 | RCV003398981.2 |
Citations for germline classification of this variant
HelpText-mined citations for rs113902534 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Jun 23, 2024