Submissions for variant NM_001110556.2(FLNA):c.2103C>T (p.His701=)

gnomAD frequency: 0.00018  dbSNP: rs200227077

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000426626	SCV000516873	benign	not specified	2016-11-14	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.
Invitae	RCV000463065	SCV000556079	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313045	SCV000739080	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-07-25	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.
CeGaT Center for Human Genetics Tuebingen	RCV002292548	SCV002585151	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	FLNA: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003912639	SCV004732646	likely benign	FLNA-related condition	2019-05-02	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).