ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5219C>T (p.Ala1740Val)

gnomAD frequency: 0.00003  dbSNP: rs782714867
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318232 SCV000851508 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-01-26 criteria provided, single submitter clinical testing The p.A1732V variant (also known as c.5195C>T), located in coding exon 30 of the FLNA gene, results from a C to T substitution at nucleotide position 5195. The alanine at codon 1732 is replaced by valine, an amino acid with similar properties. This amino acid position is well 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 variant remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757308 SCV000885478 uncertain significance not provided 2017-10-10 criteria provided, single submitter clinical testing
GeneDx RCV000757308 SCV001820774 uncertain significance not provided 2020-09-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 590049; Landrum et al., 2016)
Labcorp Genetics (formerly Invitae), Labcorp RCV001868373 SCV002215372 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-05 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1732 of the FLNA protein (p.Ala1732Val). This variant is present in population databases (rs782714867, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with FLNA-related conditions. ClinVar contains an entry for this variant (Variation ID: 590049). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV000757308 SCV003832734 uncertain significance not provided 2021-01-29 criteria provided, single submitter clinical testing

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