ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.781C>G (p.Leu261Val)

dbSNP: rs2067771137
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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 RCV001342256 SCV001536176 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-04-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FLNA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 261 of the FLNA protein (p.Leu261Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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