ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.53GCG[4] (p.Gly20_Val21insGly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003793295 SCV004581154 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-07-19 criteria provided, single submitter clinical testing This variant, c.59_61dup, results in the insertion of 1 amino acid(s) of the FLNA protein (p.Gly20dup), but otherwise preserves the integrity of the reading frame. 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. This variant has not been reported in the literature in individuals affected with FLNA-related conditions. This variant is not present in population databases (gnomAD no frequency).

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