Submissions for variant NM_001110556.2(FLNA):c.7898_7900del (p.Gly2633del)

dbSNP: rs863223635

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001340749	SCV001534577	uncertain significance	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2020-05-23	criteria provided, single submitter	clinical testing	In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with bilateral periventricular heterotopia (PMID: 25686753). This variant is also known as c.7897del3, p.2633delGly in the literature. This variant is not present in population databases (ExAC no frequency). This variant, c.7874_7876del, results in the deletion of 1 amino acid(s) of the FLNA protein (p.Gly2625del), but otherwise preserves the integrity of the reading frame.
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	RCV001252502	SCV002102856	likely pathogenic	Heterotopia, periventricular, X-linked dominant	2021-11-10	criteria provided, single submitter	clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001252502	SCV001428259	likely pathogenic	Heterotopia, periventricular, X-linked dominant	2019-01-01	no assertion criteria provided	clinical testing