Submissions for variant NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys)

gnomAD frequency: 0.00023  dbSNP: rs200524526

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724209	SCV000229943	uncertain significance	not provided	2016-07-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000724209	SCV000250428	likely benign	not provided	2020-11-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314640	SCV000739104	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-09-16	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	RCV001087795	SCV001002480	likely benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-12-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724209	SCV001248060	uncertain significance	not provided	2019-07-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000724209	SCV005879390	uncertain significance	not provided	2024-08-14	criteria provided, single submitter	clinical testing	The FLNA c.6388G>T; p.Gly2130Cys variant (rs200524526), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 197062). This variant is found in the non-Finnish European population with an allele frequency of 0.021% (19/91776) in the Genome Aggregation Database (v2.1.1). Computational analyses predict that this variant is deleterious (REVEL: 0.890). Due to limited information, the clinical significance of this variant is uncertain at this time.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000724209	SCV001740809	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000724209	SCV001797806	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000724209	SCV001808873	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000724209	SCV001929446	likely benign	not provided		no assertion criteria provided	clinical testing