Submissions for variant NM_001110556.2(FLNA):c.3522C>T (p.Thr1174=)

gnomAD frequency: 0.00013  dbSNP: rs373625856

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000499732	SCV000594803	likely benign	not specified	2016-06-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004023374	SCV000739074	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-02-16	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000640795	SCV000762394	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-02	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680541	SCV000807951	likely benign	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001544977	SCV001764210	likely benign	not provided	2021-03-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541556	SCV004796057	likely benign	FLNA-related disorder	2019-04-30	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).