ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7768_7770CTG[1] (p.Leu2591del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059893 SCV001224547 likely pathogenic Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2019-08-27 criteria provided, single submitter clinical testing This variant, c.7747_7749del, results in the deletion of 1 amino acid(s) of the FLNA protein (p.Leu2583del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with clinical features of FLNA-related conditions (Invitae). In at least one individual the variant was observed to be de novo. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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