ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7205T>C (p.Ile2402Thr)

gnomAD frequency: 0.00007  dbSNP: rs202152952
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553794 SCV000639828 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377082 SCV002667137 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-08-02 criteria provided, single submitter clinical testing The p.I2394T variant (also known as c.7181T>C), located in coding exon 43 of the FLNA gene, results from a T to C substitution at nucleotide position 7181. The isoleucine at codon 2394 is replaced by threonine, an amino acid with similar properties. Based on data from gnomAD, the C allele has an overall frequency of 0.0033% (6/181756) total alleles studied, with 2 hemizygote(s) observed. The highest observed frequency was 0.0074% (6/81483) of European (non-Finnish) alleles. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious 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 RCV003480675 SCV004225694 uncertain significance not provided 2022-10-27 criteria provided, single submitter clinical testing PP2, PP3

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