Submissions for variant NM_001110556.2(FLNA):c.5787G>A (p.Pro1929=)

gnomAD frequency: 0.00012  dbSNP: rs376974488

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002316546	SCV000851881	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-07-07	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV001455452	SCV001659212	likely benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2021-10-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000530739	SCV001816632	likely benign	not provided	2021-07-26	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821545	SCV002070231	likely benign	not specified	2020-05-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003900167	SCV004716445	likely benign	FLNA-related condition	2022-06-13	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).