ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7817_7820del (p.Val2606fs) (rs1557175175)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548965 SCV000639839 uncertain significance Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1 2017-06-27 criteria provided, single submitter clinical testing This sequence change results in a frameshift and extension of the FLNA gene (p.Val2598Glyfs*98). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 42 amino acids of the FLNA protein and extend the length of the FLNA protein by 56 additional amino acid residues. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a FLNA-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted and added amino acids is currently unknown. In summary, this variant has uncertain impact on FLNA function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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