ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4207A>G (p.Met1403Val)

gnomAD frequency: 0.00001  dbSNP: rs781976719
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313358 SCV000739091 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-01-09 criteria provided, single submitter clinical testing The p.M1403V variant (also known as c.4207A>G), located in coding exon 24 of the FLNA gene, results from an A to G substitution at nucleotide position 4207. The methionine at codon 1403 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well 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.
Invitae RCV001052134 SCV001216330 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV003238784 SCV003936260 uncertain significance not provided 2022-12-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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