ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5428A>G (p.Met1810Val)

dbSNP: rs2067645436
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001223142 SCV001395277 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2022-09-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 951271). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FLNA protein function. This variant has not been reported in the literature in individuals affected with FLNA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1802 of the FLNA protein (p.Met1802Val).
PreventionGenetics, part of Exact Sciences RCV003426002 SCV004116868 uncertain significance FLNA-related condition 2023-08-09 criteria provided, single submitter clinical testing The FLNA c.5428A>G variant is predicted to result in the amino acid substitution p.Met1810Val. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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