ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.70C>G (p.Arg24Gly)

dbSNP: rs1164930154
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791104 SCV000930378 uncertain significance FLNA related disorders 2019-04-27 criteria provided, single submitter clinical testing
Invitae RCV001307455 SCV001496867 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-12-25 criteria provided, single submitter clinical testing 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. 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 with FLNA-related conditions. ClinVar contains an entry for this variant (Variation ID: 638442). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glycine at codon 24 of the FLNA protein (p.Arg24Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine.

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