ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3127G>T (p.Val1043Leu)

dbSNP: rs1475916528
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313489 SCV000848476 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-12-12 criteria provided, single submitter clinical testing The p.V1043L variant (also known as c.3127G>T), located in coding exon 20 of the FLNA gene, results from a G to T substitution at nucleotide position 3127. The valine at codon 1043 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Centre of Medical Genetics, University of Antwerp RCV002246007 SCV002025498 uncertain significance Heterotopia, periventricular, X-linked dominant 2021-03-01 criteria provided, single submitter research PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV001862036 SCV002146762 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2022-08-15 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. ClinVar contains an entry for this variant (Variation ID: 588547). 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 valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1043 of the FLNA protein (p.Val1043Leu).
GeneDx RCV002275147 SCV002562610 uncertain significance not provided 2022-12-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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