ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1609G>A (p.Val537Met)

gnomAD frequency: 0.00003  dbSNP: rs782067087
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050668 SCV001214787 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-02-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002400288 SCV002706462 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-07-20 criteria provided, single submitter clinical testing The p.V537M variant (also known as c.1609G>A), located in coding exon 10 of the FLNA gene, results from a G to A substitution at nucleotide position 1609. The valine at codon 537 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is 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.

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