ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met)

gnomAD frequency: 0.00003  dbSNP: rs369791082
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791510 SCV000930762 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-11-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 2608 of the FLNA protein (p.Val2608Met). This variant is not present in population databases (gnomAD no frequency). 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: 638848). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FLNA protein function with a negative predictive value of 95%. 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.
Ambry Genetics RCV002406720 SCV002673356 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-07-11 criteria provided, single submitter clinical testing The p.V2608M variant (also known as c.7822G>A), located in coding exon 46 of the FLNA gene, results from a G to A substitution at nucleotide position 7822. The valine at codon 2608 is replaced by methionine, an amino acid with highly 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 alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330954 SCV004038918 uncertain significance not specified 2023-08-10 criteria provided, single submitter clinical testing
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003387931 SCV004099336 uncertain significance FG syndrome 2 2023-10-30 no assertion criteria provided clinical testing

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