ClinVar Miner

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

dbSNP: rs863223635
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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

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