ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4243A>G (p.Ile1415Val)

dbSNP: rs2067686132
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001298330 SCV001487382 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-05-20 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1001969). 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 isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1415 of the FLNA protein (p.Ile1415Val). 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. 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810722 SCV002050043 uncertain significance not provided 2021-03-20 criteria provided, single submitter clinical testing The FLNA c.4243A>G; p.Ile1415Val variant, to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1001969). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The isoleucine at codon 1415 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.294). Given the lack of clinical and functional data, the significance of the p.Ile1415Val variant is uncertain at this time.

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