ClinVar Miner

Variants with conflicting interpretations studied for Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections

Coded as:
Minimum review status of the submission for Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections: Y axis collection method of the submission for Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
33 18 0 23 0 0 5 27

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections pathogenic likely pathogenic uncertain significance
pathogenic 0 13 2
likely pathogenic 10 0 3

Condition to condition summary #

Total conditions: 6
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Marfan syndrome 0 17 0 13 0 0 4 17
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 0 16 0 6 0 0 1 7
not provided 0 18 0 7 0 0 0 7
Cardiovascular phenotype 0 11 0 6 0 0 0 6
Thoracic aortic aneurysm and aortic dissection 0 4 0 4 0 0 0 4
Ectopia lentis, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2; Acromicric dysplasia; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome 0 4 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_000138.4(FBN1):c.1148-2A>G rs397515756
NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.4(FBN1):c.1A>C (p.Met1Leu) rs730880097
NM_000138.4(FBN1):c.2243G>A (p.Cys748Tyr) rs1064794282
NM_000138.4(FBN1):c.2261A>G (p.Tyr754Cys) rs137854479
NM_000138.4(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.4(FBN1):c.2858del (p.Ile953fs) rs1555398836
NM_000138.4(FBN1):c.2953G>A (p.Gly985Arg) rs794728199
NM_000138.4(FBN1):c.3463G>A (p.Asp1155Asn) rs794728204
NM_000138.4(FBN1):c.3513C>G (p.Cys1171Trp) rs775417975
NM_000138.4(FBN1):c.401G>A (p.Cys134Tyr) rs1555405043
NM_000138.4(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.4(FBN1):c.441del (p.Gln147fs) rs1555405028
NM_000138.4(FBN1):c.4562del (p.Pro1521fs) rs886039035
NM_000138.4(FBN1):c.5014T>G (p.Cys1672Gly) rs112930491
NM_000138.4(FBN1):c.5372G>A (p.Cys1791Tyr) rs886038848
NM_000138.4(FBN1):c.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.4(FBN1):c.5587G>A (p.Gly1863Arg) rs1555395987
NM_000138.4(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000138.4(FBN1):c.5788+5G>A rs193922219
NM_000138.4(FBN1):c.6354C>T (p.Ile2118=) rs112989722
NM_000138.4(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000138.4(FBN1):c.7606G>A (p.Gly2536Arg) rs397515854
NM_000138.4(FBN1):c.7708G>A (p.Glu2570Lys) rs886038786
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000138.4(FBN1):c.7916A>G (p.Tyr2639Cys) rs794728280

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