ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5911A>T (p.Ile1971Phe)

gnomAD frequency: 0.00008  dbSNP: rs190712778
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532103 SCV000639812 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-12-10 criteria provided, single submitter clinical testing
GeneDx RCV001571401 SCV001795871 likely benign not provided 2023-03-22 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002358505 SCV002649490 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-12-17 criteria provided, single submitter clinical testing The p.I1963F variant (also known as c.5887A>T), located in coding exon 35 of the FLNA gene, results from an A to T substitution at nucleotide position 5887. The isoleucine at codon 1963 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, phenylalanine is the reference amino acid in other 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001571401 SCV004225697 uncertain significance not provided 2022-08-25 criteria provided, single submitter clinical testing BP4, PP3

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