ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.61G>T (p.Val21Phe)

gnomAD frequency: 0.00002  dbSNP: rs1223954254
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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 RCV002235303 SCV000946609 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2022-07-05 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: 651279). 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 phenylalanine, which is neutral and non-polar, at codon 21 of the FLNA protein (p.Val21Phe).
Ambry Genetics RCV002360982 SCV002659357 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-05-31 criteria provided, single submitter clinical testing The p.V21F variant (also known as c.61G>T), located in coding exon 1 of the FLNA gene, results from a G to T substitution at nucleotide position 61. The valine at codon 21 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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