Submissions for variant NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser)

gnomAD frequency: 0.00001  dbSNP: rs781993685

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001214180	SCV001385851	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2023-12-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000722193	SCV001856490	benign	not provided	2019-11-20	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 32019516, 27375131)
Genetic Services Laboratory, University of Chicago	RCV001816792	SCV002067758	likely benign	not specified	2018-12-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002334406	SCV002640533	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-09-27	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.
Gharavi Laboratory, Columbia University	RCV000722193	SCV000853324	uncertain significance	not provided	2018-09-16	no assertion criteria provided	research
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000722193	SCV001930738	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000722193	SCV001970619	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004540027	SCV004763028	likely benign	FLNA-related disorder	2023-06-15	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).