ClinVar Genomic variation as it relates to human health
NM_000138.5(FBN1):c.1201T>A (p.Tyr401Asn)
Germline
Classification
(3)
Uncertain significance
criteria provided, multiple submitters, no conflicts
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 |
7436 | 7765 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 3, 2022 | RCV003093749.1 | |
Uncertain significance (1) |
|
Oct 19, 2023 | RCV003528424.1 | |
Uncertain significance (1) |
|
Nov 2, 2023 | RCV004009389.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 20, 2024