Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000757279 | SCV000233892 | likely benign | not provided | 2021-04-28 | criteria provided, single submitter | clinical testing | Has been previously reported in published literature (Groth et al., 2017); In silico analysis supports that this missense variant does not alter protein structure/function; Does not affect a cysteine residue within a calcium-binding EGF-like domain of the FBN1 gene; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN1-related disorders (Collod-Beroud et al., 2003).; Reported in ClinVar (ClinVar Variant ID# 36111; Landrum et al., 2016); Observed in 55/282,216 (0.02%) alleles in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27906200) |
Genomic Diagnostic Laboratory, |
RCV000029773 | SCV000296875 | uncertain significance | Marfan syndrome | 2015-10-13 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000181589 | SCV000695591 | benign | not specified | 2017-06-28 | criteria provided, single submitter | clinical testing | Variant summary: The FBN1 c.7072G>A (p.Val2358Ile) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant. Multiple clinical diagnostic laboratories/reputable databases classified this variant as VUS. However, this variant was found in 30/121026 control chromosomes at a frequency of 0.0002479, which is approximately 2 times the estimated maximal expected allele frequency of a pathogenic FBN1 variant (0.0001125), suggesting this variant is likely a benign polymorphism. Supporting its benign nature, this variant has been found in one internal sample which carries a likely pathogenic FBN1 variant (c.1728C>A/p.Cys576X). Taken together, this variant is classified as benign. |
Invitae | RCV001087538 | SCV000753148 | likely benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2023-10-23 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000757279 | SCV000885438 | uncertain significance | not provided | 2017-10-18 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000029773 | SCV001139589 | benign | Marfan syndrome | 2023-08-22 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001183241 | SCV001348922 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-02-11 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001183241 | SCV003838341 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-02-28 | criteria provided, single submitter | clinical testing |