ClinVar Miner

Submissions for variant NC_000023.10:g.(?_153595748)_(153596947_?)del

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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 RCV003107405 SCV003793586 pathogenic Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2022-10-18 criteria provided, single submitter clinical testing This variant disrupts a region of the FLNA protein in which other variant(s) (p.Leu140Phe) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with FLNA-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 3-5 of the FLNA gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. For these reasons, this variant has been classified as Pathogenic.

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