ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5063T>G (p.Val1688Gly)

gnomAD frequency: 0.00001  dbSNP: rs1461148946
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626749 SCV000747452 uncertain significance Heterotopia, periventricular, X-linked dominant 2021-05-17 criteria provided, single submitter clinical testing This variant was identified in hemizygous form in a patient with an alternative molecular diagnosis and an unrelated clinical presentation.
Invitae RCV002533153 SCV003201373 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2022-05-17 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1680 of the FLNA protein (p.Val1680Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FLNA-related conditions. ClinVar contains an entry for this variant (Variation ID: 523405). 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 expected to disrupt FLNA protein function. 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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