Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Soonchunhyang University Bucheon Hospital, |
RCV000148488 | SCV000267312 | uncertain significance | Marfan syndrome | 2016-03-18 | criteria provided, single submitter | reference population | |
Invitae | RCV000530970 | SCV000627984 | benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2023-10-09 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001115601 | SCV001273589 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001115602 | SCV001273590 | uncertain significance | Acromicric dysplasia | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001115603 | SCV001273591 | uncertain significance | Ectopia lentis 1, isolated, autosomal dominant | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV000148488 | SCV001275175 | uncertain significance | Marfan syndrome | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001117026 | SCV001275176 | uncertain significance | Stiff skin syndrome | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001117027 | SCV001275177 | uncertain significance | Weill-Marchesani syndrome | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Color Diagnostics, |
RCV001115601 | SCV001349852 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-02-28 | criteria provided, single submitter | clinical testing | This missense variant replaces arginine with glutamine at codon 2414 of the FBN1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in two related individuals with Marfan-related phenotype from a family with history of Marfan syndrome (PMID: 16835936). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Gene |
RCV000995333 | SCV001823126 | uncertain significance | not provided | 2023-10-09 | criteria provided, single submitter | clinical testing | Reported in individuals with suspected TAAD or Marfan syndrome who did not meet Ghent criteria (Sakai et al., 2006; Overwater et al., 2018); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Although located in a calcium-binding EGF-like domain of the FBN1 gene, it does not affect a cysteine residue within this domain; 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); This variant is associated with the following publications: (PMID: 22913777, 27647783, 24941995, 25812041, 25637381, 16835936, 29907982, 12938084) |
Fulgent Genetics, |
RCV002483288 | SCV002779839 | uncertain significance | Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000148488 | SCV004822390 | uncertain significance | Marfan syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing | This missense variant replaces arginine with glutamine at codon 2414 of the FBN1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in two related individuals with Marfan-related phenotype from a family with history of Marfan syndrome (PMID: 16835936). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
CSER _CC_NCGL, |
RCV000148488 | SCV000190192 | likely benign | Marfan syndrome | 2014-06-01 | no assertion criteria provided | research |