Submissions for variant NM_000138.5(FBN1):c.6314A>T (p.Glu2105Val)

dbSNP: rs1165109120

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001306274	SCV001495638	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2023-07-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001529950	SCV001987394	uncertain significance	not provided	2021-10-21	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; In addition, in silico splice analysis is inconclusive as to whether the variant alters gene splicing; in the absence of RNA/functional studies, the actual effect of this sequence change is unknown; Reported in ClinVar (ClinVar Variant ID #1008866; Landrum et al., 2016)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529950	SCV001744331	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001529950	SCV001807522	uncertain significance	not provided		no assertion criteria provided	clinical testing