ClinVar Miner

Submissions for variant NC_000023.10:g.(?_153586547)_(153609557_?)dup

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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 RCV003107406 SCV003793587 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2022-01-23 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. Isolated whole-gene copy number gains of FLNA have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 20871226). This variant results in a copy number gain of the genomic region encompassing exon(s) 1-28 of the FLNA gene. This region includes the initiator codon of the gene. This copy number gain extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome.

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