ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7259T>C (p.Val2420Ala)

gnomAD frequency: 0.00002  dbSNP: rs782289803
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595937 SCV000704139 uncertain significance not provided 2017-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315890 SCV000739079 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-03-31 criteria provided, single submitter clinical testing The p.V2412A variant (also known as c.7235T>C), located in coding exon 43 of the FLNA gene, results from a T to C substitution at nucleotide position 7235. The valine at codon 2412 is replaced by alanine, an amino acid with similar properties. Based on data from gnomAD, the C allele has an overall frequency of 0.0006% (1/181729 ) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was 0.0012% (1/81452) of European (non-Finnish) alleles. This amino acid position is highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000697313 SCV000825915 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2025-02-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323625 SCV004029208 uncertain significance not specified 2023-07-21 criteria provided, single submitter clinical testing

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