Submissions for variant NM_001110556.2(FLNA):c.5271G>A (p.Leu1757=)

gnomAD frequency: 0.00002  dbSNP: rs782031542

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002313360	SCV000739093	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-07-22	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	RCV000869956	SCV001011419	likely benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2023-10-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001774	SCV001159412	likely benign	not specified	2018-12-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905665	SCV004719076	likely benign	FLNA-related condition	2019-07-30	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).