ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1454C>T (p.Ala485Val)

gnomAD frequency: 0.00002  dbSNP: rs782262202
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805539 SCV000945497 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388515 SCV002698226 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-12-13 criteria provided, single submitter clinical testing The p.A485V variant (also known as c.1454C>T), located in coding exon 9 of the FLNA gene, results from a C to T substitution at nucleotide position 1454. The alanine at codon 485 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003928279 SCV004739090 likely benign FLNA-related condition 2019-05-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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