ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7738G>A (p.Val2580Ile) (rs377518545)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000640759 SCV000762358 uncertain significance Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2019-09-04 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 2572 of the FLNA protein (p.Val2572Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs377518545, ExAC 0.002%). This variant has been reported in an individual affected with periventricular heterotopia (PMID: 26471271). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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.

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