Submissions for variant NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=)

gnomAD frequency: 0.00014  dbSNP: rs370868704

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117044	SCV000151176	uncertain significance	not provided	2013-06-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000225737	SCV000250332	benign	not specified	2015-01-16	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000117044	SCV000341481	uncertain significance	not provided	2016-05-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085193	SCV000639777	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000117044	SCV001150530	uncertain significance	not provided	2016-05-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000117044	SCV001472158	likely benign	not provided	2019-08-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444569	SCV002754095	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-06-12	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.
PreventionGenetics, part of Exact Sciences	RCV004542839	SCV004763643	likely benign	FLNA-related disorder	2021-10-06	no assertion criteria provided	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).