ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1771G>A (p.Val591Ile)

gnomAD frequency: 0.00011  dbSNP: rs200673062
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000868360 SCV001009678 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408867 SCV002716853 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-06-22 criteria provided, single submitter clinical testing The p.V591I variant (also known as c.1771G>A), located in coding exon 11 of the FLNA gene, results from a G to A substitution at nucleotide position 1771. The valine at codon 591 is replaced by isoleucine, 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252920 SCV001164063 uncertain significance Microcephaly no assertion criteria provided research

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