ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) (rs1603358246)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807730 SCV000947799 pathogenic Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2019-06-28 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the FLNA gene (p.Glu2617Valfs*124). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 23 amino acids of the FLNA protein and extend the protein by an additional 101 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with periventricular heterotopia (Invitae). This variant results in an extension of the FLNA protein. Other variant(s) that result in a similarly extended protein product (p.*2640Serext*100) have been determined to be pathogenic (PMID: 23873601, 28428218). This suggests that these extensions are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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