ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6964G>A (p.Val2322Met)

gnomAD frequency: 0.00005  dbSNP: rs782084497
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002029943 SCV002110540 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-05-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004822937 SCV005586260 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-11-27 criteria provided, single submitter clinical testing The p.V2314M variant (also known as c.6940G>A), located in coding exon 41 of the FLNA gene, results from a G to A substitution at nucleotide position 6940. The valine at codon 2314 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. Based on data from gnomAD, the A allele has an overall frequency of 0.0015% (3/203070) total alleles studied, with no hemizygote(s) observed. The highest observed frequency was 0.0165% (3/18228) of African/African American alleles. Based on the available evidence, the clinical significance of this variant remains unclear.

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