ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6705A>C (p.Glu2235Asp)

dbSNP: rs1057520156
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000441394 SCV000511456 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002524727 SCV003442127 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-09-06 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: 377188). 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 glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 2227 of the FLNA protein (p.Glu2227Asp).
Ambry Genetics RCV004022276 SCV003559630 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-01-27 criteria provided, single submitter clinical testing The p.E2227D variant (also known as c.6681A>C), located in coding exon 39 of the FLNA gene, results from an A to C substitution at nucleotide position 6681. The glutamic acid at codon 2227 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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